TMLHE - Revision history

Minorax: Cleaned up using AutoEd

2023-03-02T03:15:41Z

Cleaned up using AutoEd

← Previous revision		Revision as of 03:15, 2 March 2023
Line 16:		Line 16:
	== Clinical significance ==		== Clinical significance ==

	[[Mutations]] in the ''TMLHE'' gene cause [[~~Epsilon-trimethyllysine hydroxylase deficiency\|~~epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[~~Autism spectrum disorders\|~~autism spectrum disorders]].<ref>{{Cite web\|url=http://www.omim.org/entry/300872\|title = OMIM Entry - # 300872 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6}}</ref><ref name=":0" />		[[Mutations]] in the ''TMLHE'' gene cause [[epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[autism spectrum disorders]].<ref>{{Cite web\|url=http://www.omim.org/entry/300872\|title = OMIM Entry - # 300872 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6}}</ref><ref name=":0" />

	== Interactions ==		== Interactions ==

89.220.136.2: Corrected 3 typos (THLHE > TMLHE)

2022-06-21T19:31:44Z

Corrected 3 typos (THLHE > TMLHE)

← Previous revision		Revision as of 19:31, 21 June 2022
Line 16:		Line 16:
	== Clinical significance ==		== Clinical significance ==

	[[Mutations]] in the ''~~THLHE~~'' gene cause [[Epsilon-trimethyllysine hydroxylase deficiency\|epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders\|autism spectrum disorders]].<ref>{{Cite web\|url=http://www.omim.org/entry/300872\|title = OMIM Entry - # 300872 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6}}</ref><ref name=":0" />		[[Mutations]] in the ''TMLHE'' gene cause [[Epsilon-trimethyllysine hydroxylase deficiency\|epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders\|autism spectrum disorders]].<ref>{{Cite web\|url=http://www.omim.org/entry/300872\|title = OMIM Entry - # 300872 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6}}</ref><ref name=":0" />

	== Interactions ==		== Interactions ==
	~~THLHE~~ has been shown to have 14 binary [[Protein–protein interaction\|protein-protein interactions]] including 12 co-complex interactions. ~~THLHE~~ appears to interact with SUGCT.<ref>{{cite web \| url = https://www.ebi.ac.uk/intact/interactions?conversationContext=3&query=TMLHE \| title = 14 binary interactions found for search term TMLHE \| work = IntAct Molecular Interaction Database \| publisher = EMBL-EBI \| access-date = 2018-08-25 }}</ref>		TMLHE has been shown to have 14 binary [[Protein–protein interaction\|protein-protein interactions]] including 12 co-complex interactions. TMLHE appears to interact with SUGCT.<ref>{{cite web \| url = https://www.ebi.ac.uk/intact/interactions?conversationContext=3&query=TMLHE \| title = 14 binary interactions found for search term TMLHE \| work = IntAct Molecular Interaction Database \| publisher = EMBL-EBI \| access-date = 2018-08-25 }}</ref>

	== References ==		== References ==

CopperKettle: /* Clinical significance */ decapitalized some more

2022-05-18T03:29:07Z

Clinical significance: decapitalized some more

← Previous revision		Revision as of 03:29, 18 May 2022
Line 16:		Line 16:
	== Clinical significance ==		== Clinical significance ==

	[[Mutations]] in the ''THLHE'' gene cause [[Epsilon-trimethyllysine hydroxylase deficiency\|epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>{{Cite web\|url=http://www.omim.org/entry/300872\|title = OMIM Entry - # 300872 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6}}</ref><ref name=":0" />		[[Mutations]] in the ''THLHE'' gene cause [[Epsilon-trimethyllysine hydroxylase deficiency\|epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders\|autism spectrum disorders]].<ref>{{Cite web\|url=http://www.omim.org/entry/300872\|title = OMIM Entry - # 300872 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6}}</ref><ref name=":0" />

	== Interactions ==		== Interactions ==

CopperKettle: /* Clinical significance */ decapitalized disease name; grammar fix

2022-05-18T03:28:23Z

Clinical significance: decapitalized disease name; grammar fix

← Previous revision		Revision as of 03:28, 18 May 2022
Line 16:		Line 16:
	== Clinical significance ==		== Clinical significance ==

	[[Mutations]] in the ''THLHE'' gene ~~causes~~ [[Epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>{{Cite web\|url=http://www.omim.org/entry/300872\|title = OMIM Entry - # 300872 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6}}</ref><ref name=":0" />		[[Mutations]] in the ''THLHE'' gene cause [[Epsilon-trimethyllysine hydroxylase deficiency\|epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>{{Cite web\|url=http://www.omim.org/entry/300872\|title = OMIM Entry - # 300872 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6}}</ref><ref name=":0" />

	== Interactions ==		== Interactions ==

Ffffrr: Importing Wikidata short description: "Protein-coding gene in the species Homo sapiens" (Shortdesc helper)

2022-03-27T08:32:12Z

Importing Wikidata short description: "Protein-coding gene in the species Homo sapiens" (Shortdesc helper)

← Previous revision		Revision as of 08:32, 27 March 2022
Line 1:		Line 1:
			{{Short description\|Protein-coding gene in the species Homo sapiens}}
	{{Infobox_gene}}		{{Infobox_gene}}
	'''Trimethyllysine dioxygenase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''TMLHE'' [[gene]] in [[chromosome X]].<ref name="pmid8908511">{{cite journal \| vauthors = Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B, Poustka A \| title = Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28 \| journal = Genome Research \| volume = 6 \| issue = 10 \| pages = 922–34 \| date = October 1996 \| pmid = 8908511 \| doi = 10.1101/gr.6.10.922 \| doi-access = free }}</ref><ref name="pmid11431483">{{cite journal \| vauthors = Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ \| title = Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis \| journal = The Journal of Biological Chemistry \| volume = 276 \| issue = 36 \| pages = 33512–7 \| date = September 2001 \| pmid = 11431483 \| doi = 10.1074/jbc.M105929200 \| doi-access = free }}</ref><ref name="entrez">{{cite web \| title = Entrez Gene: TMLHE trimethyllysine hydroxylase, epsilon\| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55217}}</ref> Mutations in the ''TMLHE'' gene resulting in [[carnitine biosynthesis]] disruption have been associated with autism symptoms.<ref name=":0">{{cite journal \| vauthors = Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP \| title = Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation \| journal = American Journal of Medical Genetics. Part A \| volume = 167A \| issue = 9 \| pages = 2162–7 \| date = September 2015 \| pmid = 25943046 \| doi = 10.1002/ajmg.a.37144 \| s2cid = 205320608 }}</ref>		'''Trimethyllysine dioxygenase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''TMLHE'' [[gene]] in [[chromosome X]].<ref name="pmid8908511">{{cite journal \| vauthors = Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B, Poustka A \| title = Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28 \| journal = Genome Research \| volume = 6 \| issue = 10 \| pages = 922–34 \| date = October 1996 \| pmid = 8908511 \| doi = 10.1101/gr.6.10.922 \| doi-access = free }}</ref><ref name="pmid11431483">{{cite journal \| vauthors = Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ \| title = Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis \| journal = The Journal of Biological Chemistry \| volume = 276 \| issue = 36 \| pages = 33512–7 \| date = September 2001 \| pmid = 11431483 \| doi = 10.1074/jbc.M105929200 \| doi-access = free }}</ref><ref name="entrez">{{cite web \| title = Entrez Gene: TMLHE trimethyllysine hydroxylase, epsilon\| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55217}}</ref> Mutations in the ''TMLHE'' gene resulting in [[carnitine biosynthesis]] disruption have been associated with autism symptoms.<ref name=":0">{{cite journal \| vauthors = Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP \| title = Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation \| journal = American Journal of Medical Genetics. Part A \| volume = 167A \| issue = 9 \| pages = 2162–7 \| date = September 2015 \| pmid = 25943046 \| doi = 10.1002/ajmg.a.37144 \| s2cid = 205320608 }}</ref>

Citation bot: Add: title. Changed bare reference to CS1/2. | Use this bot. Report bugs. | Suggested by BrownHairedGirl | Linked from User:BrownHairedGirl/Articles_with_bare_links | #UCB_webform_linked 316/2171

2022-02-10T10:03:55Z

Add: title. Changed bare reference to CS1/2. | Use this bot. Report bugs. | Suggested by BrownHairedGirl | Linked from User:BrownHairedGirl/Articles_with_bare_links | #UCB_webform_linked 316/2171

← Previous revision		Revision as of 10:03, 10 February 2022
Line 15:		Line 15:
	== Clinical significance ==		== Clinical significance ==

	[[Mutations]] in the ''THLHE'' gene causes [[Epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>http://www.omim.org/entry/300872</ref><ref name=":0" />		[[Mutations]] in the ''THLHE'' gene causes [[Epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>{{Cite web\|url=http://www.omim.org/entry/300872\|title = OMIM Entry - # 300872 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6}}</ref><ref name=":0" />

	== Interactions ==		== Interactions ==

Citation bot: Alter: issue. Add: issue, s2cid. Formatted dashes. | Use this bot. Report bugs. | Suggested by BrownHairedGirl | Linked from User:BrownHairedGirl/Articles_with_bare_links | #UCB_webform_linked 69/494

2021-09-19T21:20:31Z

Alter: issue. Add: issue, s2cid. Formatted dashes. | Use this bot. Report bugs. | Suggested by BrownHairedGirl | Linked from User:BrownHairedGirl/Articles_with_bare_links | #UCB_webform_linked 69/494

← Previous revision		Revision as of 21:20, 19 September 2021
Line 1:		Line 1:
	{{Infobox_gene}}		{{Infobox_gene}}
	'''Trimethyllysine dioxygenase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''TMLHE'' [[gene]] in [[chromosome X]].<ref name="pmid8908511">{{cite journal \| vauthors = Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B, Poustka A \| title = Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28 \| journal = Genome Research \| volume = 6 \| issue = 10 \| pages = 922–34 \| date = October 1996 \| pmid = 8908511 \| doi = 10.1101/gr.6.10.922 \| doi-access = free }}</ref><ref name="pmid11431483">{{cite journal \| vauthors = Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ \| title = Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis \| journal = The Journal of Biological Chemistry \| volume = 276 \| issue = 36 \| pages = 33512–7 \| date = September 2001 \| pmid = 11431483 \| doi = 10.1074/jbc.M105929200 \| doi-access = free }}</ref><ref name="entrez">{{cite web \| title = Entrez Gene: TMLHE trimethyllysine hydroxylase, epsilon\| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55217}}</ref> Mutations in the ''TMLHE'' gene resulting in [[carnitine biosynthesis]] disruption have been associated with autism symptoms.<ref name=":0">{{cite journal \| vauthors = Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP \| title = Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation \| journal = American Journal of Medical Genetics. Part A \| volume = 167A \| issue = 9 \| pages = 2162–7 \| date = September 2015 \| pmid = 25943046 \| doi = 10.1002/ajmg.a.37144 }}</ref>		'''Trimethyllysine dioxygenase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''TMLHE'' [[gene]] in [[chromosome X]].<ref name="pmid8908511">{{cite journal \| vauthors = Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B, Poustka A \| title = Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28 \| journal = Genome Research \| volume = 6 \| issue = 10 \| pages = 922–34 \| date = October 1996 \| pmid = 8908511 \| doi = 10.1101/gr.6.10.922 \| doi-access = free }}</ref><ref name="pmid11431483">{{cite journal \| vauthors = Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ \| title = Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis \| journal = The Journal of Biological Chemistry \| volume = 276 \| issue = 36 \| pages = 33512–7 \| date = September 2001 \| pmid = 11431483 \| doi = 10.1074/jbc.M105929200 \| doi-access = free }}</ref><ref name="entrez">{{cite web \| title = Entrez Gene: TMLHE trimethyllysine hydroxylase, epsilon\| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55217}}</ref> Mutations in the ''TMLHE'' gene resulting in [[carnitine biosynthesis]] disruption have been associated with autism symptoms.<ref name=":0">{{cite journal \| vauthors = Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP \| title = Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation \| journal = American Journal of Medical Genetics. Part A \| volume = 167A \| issue = 9 \| pages = 2162–7 \| date = September 2015 \| pmid = 25943046 \| doi = 10.1002/ajmg.a.37144 \| s2cid = 205320608 }}</ref>

	== Structure ==		== Structure ==

	The ''TMHLE'' gene is located at the extreme end of the Xq28 region with high genomic instability,<ref>{{cite journal \|vauthors=Monfregola J, Napolitano G, Conte I, Cevenini A, Migliaccio C, D'Urso M, Ursini MV \|title=Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants \|journal=Gene \|volume=395 \|issue=~~1-2~~ \|pages=86–97 \|year=2007 \|pmid=17408883 \|doi=10.1016/j.gene.2007.02.012 }}</ref> and encodes a protein trimethyllysine dioxygenase, a, Fe2+ and 2-oxoglytarate dependent non-heme-ferrous iron hydrolase localized to the [[mitochondrial matrix]].<ref name="ReferenceA">{{cite journal \|vauthors=Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV \|title=Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting \|journal=J. Cell. Physiol. \|volume=204 \|issue=3 \|pages=839–47 \|year=2005 \|pmid=15754339 \|doi=10.1002/jcp.20332 }}</ref>		The ''TMHLE'' gene is located at the extreme end of the Xq28 region with high genomic instability,<ref>{{cite journal \|vauthors=Monfregola J, Napolitano G, Conte I, Cevenini A, Migliaccio C, D'Urso M, Ursini MV \|title=Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants \|journal=Gene \|volume=395 \|issue=1–2 \|pages=86–97 \|year=2007 \|pmid=17408883 \|doi=10.1016/j.gene.2007.02.012 }}</ref> and encodes a protein trimethyllysine dioxygenase, a, Fe2+ and 2-oxoglytarate dependent non-heme-ferrous iron hydrolase localized to the [[mitochondrial matrix]].<ref name="ReferenceA">{{cite journal \|vauthors=Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV \|title=Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting \|journal=J. Cell. Physiol. \|volume=204 \|issue=3 \|pages=839–47 \|year=2005 \|pmid=15754339 \|doi=10.1002/jcp.20332 \|s2cid=25224767 }}</ref>

	== Function ==		== Function ==
Line 15:		Line 15:
	== Clinical significance ==		== Clinical significance ==

	[[Mutations]] in the ''THLHE'' gene causes [[Epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>http://www.omim.org/entry/300872</ref><ref name=":0" />		[[Mutations]] in the ''THLHE'' gene causes [[Epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|issue=10 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>http://www.omim.org/entry/300872</ref><ref name=":0" />

	== Interactions ==		== Interactions ==
Line 28:		Line 28:
	* {{cite journal \| vauthors = Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S \| title = Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing \| journal = EMBO Reports \| volume = 1 \| issue = 3 \| pages = 287–92 \| date = September 2000 \| pmid = 11256614 \| pmc = 1083732 \| doi = 10.1093/embo-reports/kvd058 }}		* {{cite journal \| vauthors = Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S \| title = Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing \| journal = EMBO Reports \| volume = 1 \| issue = 3 \| pages = 287–92 \| date = September 2000 \| pmid = 11256614 \| pmc = 1083732 \| doi = 10.1093/embo-reports/kvd058 }}
	* {{cite journal \| vauthors = Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A \| title = From ORFeome to biology: a functional genomics pipeline \| journal = Genome Research \| volume = 14 \| issue = 10B \| pages = 2136–44 \| date = October 2004 \| pmid = 15489336 \| pmc = 528930 \| doi = 10.1101/gr.2576704 }}		* {{cite journal \| vauthors = Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A \| title = From ORFeome to biology: a functional genomics pipeline \| journal = Genome Research \| volume = 14 \| issue = 10B \| pages = 2136–44 \| date = October 2004 \| pmid = 15489336 \| pmc = 528930 \| doi = 10.1101/gr.2576704 }}
	* {{cite journal \| vauthors = Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV \| title = Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting \| journal = Journal of Cellular Physiology \| volume = 204 \| issue = 3 \| pages = 839–47 \| date = September 2005 \| pmid = 15754339 \| doi = 10.1002/jcp.20332 }}		* {{cite journal \| vauthors = Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV \| title = Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting \| journal = Journal of Cellular Physiology \| volume = 204 \| issue = 3 \| pages = 839–47 \| date = September 2005 \| pmid = 15754339 \| doi = 10.1002/jcp.20332 \| s2cid = 25224767 }}
	* {{cite journal \| vauthors = Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S \| title = The LIFEdb database in 2006 \| journal = Nucleic Acids Research \| volume = 34 \| issue = Database issue \| pages = D415-8 \| date = January 2006 \| pmid = 16381901 \| pmc = 1347501 \| doi = 10.1093/nar/gkj139 }}		* {{cite journal \| vauthors = Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S \| title = The LIFEdb database in 2006 \| journal = Nucleic Acids Research \| volume = 34 \| issue = Database issue \| pages = D415-8 \| date = January 2006 \| pmid = 16381901 \| pmc = 1347501 \| doi = 10.1093/nar/gkj139 }}
	* {{cite journal \| vauthors = Monfregola J, Napolitano G, Conte I, Cevenini A, Migliaccio C, D'Urso M, Ursini MV \| title = Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants \| journal = Gene \| volume = 395 \| issue = ~~1-2~~ \| pages = 86–97 \| date = June 2007 \| pmid = 17408883 \| doi = 10.1016/j.gene.2007.02.012 }}		* {{cite journal \| vauthors = Monfregola J, Napolitano G, Conte I, Cevenini A, Migliaccio C, D'Urso M, Ursini MV \| title = Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants \| journal = Gene \| volume = 395 \| issue = 1–2 \| pages = 86–97 \| date = June 2007 \| pmid = 17408883 \| doi = 10.1016/j.gene.2007.02.012 }}
	{{refend}}		{{refend}}

Monkbot: Task 18 (cosmetic): eval 15 templates: del empty params (8×);

2020-12-17T13:40:42Z

Task 18 (cosmetic): eval 15 templates: del empty params (8×);

← Previous revision		Revision as of 13:40, 17 December 2020
Line 1:		Line 1:
	{{Infobox_gene}}		{{Infobox_gene}}
	'''Trimethyllysine dioxygenase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''TMLHE'' [[gene]] in [[chromosome X]].<ref name="pmid8908511">{{cite journal \| vauthors = Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B, Poustka A \| title = Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28 \| journal = Genome Research \| volume = 6 \| issue = 10 \| pages = 922–34 \| date = October 1996 \| pmid = 8908511 ~~\| pmc =~~ \| doi = 10.1101/gr.6.10.922 \| doi-access = free }}</ref><ref name="pmid11431483">{{cite journal \| vauthors = Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ \| title = Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis \| journal = The Journal of Biological Chemistry \| volume = 276 \| issue = 36 \| pages = 33512–7 \| date = September 2001 \| pmid = 11431483 ~~\| pmc =~~ \| doi = 10.1074/jbc.M105929200 \| doi-access = free }}</ref><ref name="entrez">{{cite web \| title = Entrez Gene: TMLHE trimethyllysine hydroxylase, epsilon\| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55217~~\| access-date =~~ }}</ref> Mutations in the ''TMLHE'' gene resulting in [[carnitine biosynthesis]] disruption have been associated with autism symptoms.<ref name=":0">{{cite journal \| vauthors = Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP \| title = Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation \| journal = American Journal of Medical Genetics. Part A \| volume = 167A \| issue = 9 \| pages = 2162–7 \| date = September 2015 \| pmid = 25943046 \| doi = 10.1002/ajmg.a.37144 }}</ref>		'''Trimethyllysine dioxygenase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''TMLHE'' [[gene]] in [[chromosome X]].<ref name="pmid8908511">{{cite journal \| vauthors = Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B, Poustka A \| title = Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28 \| journal = Genome Research \| volume = 6 \| issue = 10 \| pages = 922–34 \| date = October 1996 \| pmid = 8908511 \| doi = 10.1101/gr.6.10.922 \| doi-access = free }}</ref><ref name="pmid11431483">{{cite journal \| vauthors = Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ \| title = Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis \| journal = The Journal of Biological Chemistry \| volume = 276 \| issue = 36 \| pages = 33512–7 \| date = September 2001 \| pmid = 11431483 \| doi = 10.1074/jbc.M105929200 \| doi-access = free }}</ref><ref name="entrez">{{cite web \| title = Entrez Gene: TMLHE trimethyllysine hydroxylase, epsilon\| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55217}}</ref> Mutations in the ''TMLHE'' gene resulting in [[carnitine biosynthesis]] disruption have been associated with autism symptoms.<ref name=":0">{{cite journal \| vauthors = Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP \| title = Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation \| journal = American Journal of Medical Genetics. Part A \| volume = 167A \| issue = 9 \| pages = 2162–7 \| date = September 2015 \| pmid = 25943046 \| doi = 10.1002/ajmg.a.37144 }}</ref>

	== Structure ==		== Structure ==

	The ''TMHLE'' gene is located at the extreme end of the Xq28 region with high genomic instability,<ref>{{cite journal \|vauthors=Monfregola J, Napolitano G, Conte I, Cevenini A, Migliaccio C, D'Urso M, Ursini MV \|title=Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants \|journal=Gene \|volume=395 \|issue=1-2 \|pages=86–97 \|year=2007 \|pmid=17408883 \|doi=10.1016/j.gene.2007.02.012 ~~\|url=~~}}</ref> and encodes a protein trimethyllysine dioxygenase, a, Fe2+ and 2-oxoglytarate dependent non-heme-ferrous iron hydrolase localized to the [[mitochondrial matrix]].<ref name="ReferenceA">{{cite journal \|vauthors=Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV \|title=Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting \|journal=J. Cell. Physiol. \|volume=204 \|issue=3 \|pages=839–47 \|year=2005 \|pmid=15754339 \|doi=10.1002/jcp.20332 ~~\|url=~~}}</ref>		The ''TMHLE'' gene is located at the extreme end of the Xq28 region with high genomic instability,<ref>{{cite journal \|vauthors=Monfregola J, Napolitano G, Conte I, Cevenini A, Migliaccio C, D'Urso M, Ursini MV \|title=Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants \|journal=Gene \|volume=395 \|issue=1-2 \|pages=86–97 \|year=2007 \|pmid=17408883 \|doi=10.1016/j.gene.2007.02.012 }}</ref> and encodes a protein trimethyllysine dioxygenase, a, Fe2+ and 2-oxoglytarate dependent non-heme-ferrous iron hydrolase localized to the [[mitochondrial matrix]].<ref name="ReferenceA">{{cite journal \|vauthors=Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV \|title=Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting \|journal=J. Cell. Physiol. \|volume=204 \|issue=3 \|pages=839–47 \|year=2005 \|pmid=15754339 \|doi=10.1002/jcp.20332 }}</ref>

	== Function ==		== Function ==
Line 15:		Line 15:
	== Clinical significance ==		== Clinical significance ==

	[[Mutations]] in the ''THLHE'' gene causes [[Epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 ~~\|url=~~}}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 ~~\|issue=~~ \|pages=e179 \|year=2012 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 ~~\|url=~~}}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>http://www.omim.org/entry/300872</ref><ref name=":0" />		[[Mutations]] in the ''THLHE'' gene causes [[Epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 }}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|pages=e179 \|year=2012 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 }}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>http://www.omim.org/entry/300872</ref><ref name=":0" />

	== Interactions ==		== Interactions ==

OAbot: Open access bot: doi added to citation with #oabot.

2020-04-18T12:55:16Z

Open access bot: doi added to citation with #oabot.

← Previous revision		Revision as of 12:55, 18 April 2020
Line 1:		Line 1:
	{{Infobox_gene}}		{{Infobox_gene}}
	'''Trimethyllysine dioxygenase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''TMLHE'' [[gene]] in [[chromosome X]].<ref name="pmid8908511">{{cite journal \| vauthors = Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B, Poustka A \| title = Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28 \| journal = Genome Research \| volume = 6 \| issue = 10 \| pages = 922–34 \| date = October 1996 \| pmid = 8908511 \| pmc = \| doi = 10.1101/gr.6.10.922 }}</ref><ref name="pmid11431483">{{cite journal \| vauthors = Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ \| title = Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis \| journal = The Journal of Biological Chemistry \| volume = 276 \| issue = 36 \| pages = 33512–7 \| date = September 2001 \| pmid = 11431483 \| pmc = \| doi = 10.1074/jbc.M105929200 }}</ref><ref name="entrez">{{cite web \| title = Entrez Gene: TMLHE trimethyllysine hydroxylase, epsilon\| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55217\| access-date = }}</ref> Mutations in the ''TMLHE'' gene resulting in [[carnitine biosynthesis]] disruption have been associated with autism symptoms.<ref name=":0">{{cite journal \| vauthors = Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP \| title = Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation \| journal = American Journal of Medical Genetics. Part A \| volume = 167A \| issue = 9 \| pages = 2162–7 \| date = September 2015 \| pmid = 25943046 \| doi = 10.1002/ajmg.a.37144 }}</ref>		'''Trimethyllysine dioxygenase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''TMLHE'' [[gene]] in [[chromosome X]].<ref name="pmid8908511">{{cite journal \| vauthors = Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B, Poustka A \| title = Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28 \| journal = Genome Research \| volume = 6 \| issue = 10 \| pages = 922–34 \| date = October 1996 \| pmid = 8908511 \| pmc = \| doi = 10.1101/gr.6.10.922 \| doi-access = free }}</ref><ref name="pmid11431483">{{cite journal \| vauthors = Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ \| title = Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis \| journal = The Journal of Biological Chemistry \| volume = 276 \| issue = 36 \| pages = 33512–7 \| date = September 2001 \| pmid = 11431483 \| pmc = \| doi = 10.1074/jbc.M105929200 \| doi-access = free }}</ref><ref name="entrez">{{cite web \| title = Entrez Gene: TMLHE trimethyllysine hydroxylase, epsilon\| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55217\| access-date = }}</ref> Mutations in the ''TMLHE'' gene resulting in [[carnitine biosynthesis]] disruption have been associated with autism symptoms.<ref name=":0">{{cite journal \| vauthors = Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP \| title = Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation \| journal = American Journal of Medical Genetics. Part A \| volume = 167A \| issue = 9 \| pages = 2162–7 \| date = September 2015 \| pmid = 25943046 \| doi = 10.1002/ajmg.a.37144 }}</ref>

	== Structure ==		== Structure ==

AManWithNoPlan: better

2019-04-28T19:54:37Z

better

← Previous revision		Revision as of 19:54, 28 April 2019
Line 4:		Line 4:
	== Structure ==		== Structure ==

	The ''TMHLE'' gene is located at the extreme end of the Xq28 region with high genomic instability,<ref>{{~~vcite2~~ journal \|vauthors=Monfregola J, Napolitano G, Conte I, Cevenini A, Migliaccio C, D'Urso M, Ursini MV \|title=Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants \|journal=Gene \|volume=395 \|issue=1-2 \|pages=86–97 \|year=2007 \|pmid=17408883 \|doi=10.1016/j.gene.2007.02.012 \|url=}}</ref> and encodes a protein trimethyllysine dioxygenase, a, Fe2+ and 2-oxoglytarate dependent non-heme-ferrous iron hydrolase localized to the [[mitochondrial matrix]].<ref name="ReferenceA">{{~~vcite2~~ journal \|vauthors=Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV \|title=Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting \|journal=J. Cell. Physiol. \|volume=204 \|issue=3 \|pages=839–47 \|year=2005 \|pmid=15754339 \|doi=10.1002/jcp.20332 \|url=}}</ref>		The ''TMHLE'' gene is located at the extreme end of the Xq28 region with high genomic instability,<ref>{{cite journal \|vauthors=Monfregola J, Napolitano G, Conte I, Cevenini A, Migliaccio C, D'Urso M, Ursini MV \|title=Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants \|journal=Gene \|volume=395 \|issue=1-2 \|pages=86–97 \|year=2007 \|pmid=17408883 \|doi=10.1016/j.gene.2007.02.012 \|url=}}</ref> and encodes a protein trimethyllysine dioxygenase, a, Fe2+ and 2-oxoglytarate dependent non-heme-ferrous iron hydrolase localized to the [[mitochondrial matrix]].<ref name="ReferenceA">{{cite journal \|vauthors=Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV \|title=Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting \|journal=J. Cell. Physiol. \|volume=204 \|issue=3 \|pages=839–47 \|year=2005 \|pmid=15754339 \|doi=10.1002/jcp.20332 \|url=}}</ref>

	== Function ==		== Function ==
Line 15:		Line 15:
	== Clinical significance ==		== Clinical significance ==

	[[Mutations]] in the ''THLHE'' gene causes [[Epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{~~vcite2~~ journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 \|url=}}</ref><ref>{{~~vcite2~~ journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|issue= \|pages=e179 \|year=2012 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 \|url=}}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>http://www.omim.org/entry/300872</ref><ref name=":0" />		[[Mutations]] in the ''THLHE'' gene causes [[Epsilon-trimethyllysine hydroxylase deficiency]] (TMLHED),<ref>{{cite journal \|vauthors=Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL \|title=Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE \|journal=Hum. Mol. Genet. \|volume=20 \|issue=22 \|pages=4360–70 \|year=2011 \|pmid=21865298 \|pmc=3196886 \|doi=10.1093/hmg/ddr363 \|url=}}</ref><ref>{{cite journal \|vauthors=Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C \|title=Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE \|journal=Transl Psychiatry \|volume=2 \|issue= \|pages=e179 \|year=2012 \|pmid=23092983 \|pmc=3565810 \|doi=10.1038/tp.2012.102 \|url=}}</ref> an [[inborn error of metabolism]] in [[carnitine biosynthesis]], which may increase the risks of developing [[neurodevelopmental disorder]]s, [[autism]]-related behaviors, and [[Autism spectrum disorders]].<ref>http://www.omim.org/entry/300872</ref><ref name=":0" />

	== Interactions ==		== Interactions ==