ACTH receptor
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| Melanokortin 2 receptor (adrenokortikotropski hormon) | |||||||||||
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| Identifikatori | |||||||||||
| Simboli | MC2R; ACTHR; MGC125798 | ||||||||||
| Vanjski ID | OMIM: 607397 MGI: 96928 HomoloGene: 444 IUPHAR: MC2 GeneCards: MC2R Gene | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 4158 | 17200 | |||||||||
| Ensembl | ENSG00000185231 | ENSMUSG00000045569 | |||||||||
| UniProt | Q01718 | Q544P9 | |||||||||
| RefSeq (mRNA) | NM_000529 | NM_008560 | |||||||||
| RefSeq (protein) | NP_000520 | NP_032586 | |||||||||
| Lokacija (UCSC) | Chr 18: 13.87 - 13.91 Mb | Chr 18: 68.53 - 68.55 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
ACTH receptor je tip melanokortin receptora (tip 2), takođe poznat kao MC2, koji je specifičan za ACTH.[1]
On je rasprostranjen u zona fasciculata ljudskog adrenalnog korteksa. ACTH vezivanje za receptor stimuliše produkciju kortizola. (U kontrastu s tim, produkcija aldosterona iz zona glomerulosa je stimulisana primarno angiotenzinom II.)
ACTH receptor koristi cAMP kao sekundarni glasnik.[2]
Mutacije ovog receptora uzrokuju glukokortikoidnu deficijenciju tipa 1, u kojoj pacijenti imaju visoke ACTH nivoe u serumu, i niske nivoe kortizola.[3][4]
- ↑ Beuschlein F, Fassnacht M, Klink A, Allolio B, Reincke M (2001). „ACTH-receptor expression, regulation and role in adrenocortial tumor formation”. Eur. J. Endocrinol. 144 (3): 199–206. DOI:10.1530/eje.0.1440199. PMID 11248736.
- ↑ Elias LLK, Clark AJL (2000). „The expression of the ACTH receptor”. Brazilian Journal of Medical and Biological Research 33 (10): 1245–1248. DOI:10.1590/S0100-879X2000001000015. PMID 11004726.
- ↑ Clark AJL, McLoughlin L, Grossman A (October 1993). „Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor”. Lancet 341 (8843): 461–462. DOI:10.1016/0140-6736(93)90208-X. PMID 8094489.
- ↑ Tsigos C, Arai K, Hung W, Chrousos GP (November 1993). „Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene”. J. Clin. Invest. 92 (5): 2458–2461. DOI:10.1172/JCI116853. PMC 288430. PMID 8227361.
- Cone RD, Mountjoy KG, Robbins LS, et al. (1993). „Cloning and functional characterization of a family of receptors for the melanotropic peptides.”. Ann. N. Y. Acad. Sci. 680: 342–63. DOI:10.1111/j.1749-6632.1993.tb19694.x. PMID 8390157.
- Allolio B, Reincke M (1997). „Adrenocorticotropin receptor and adrenal disorders.”. Horm. Res. 47 (4-6): 273–8. DOI:10.1159/000185476. PMID 9167964.
- Tatro JB (1997). „Receptor biology of the melanocortins, a family of neuroimmunomodulatory peptides.”. Neuroimmunomodulation 3 (5): 259–84. DOI:10.1159/000097281. PMID 9218248.
- Mountjoy KG, Robbins LS, Mortrud MT, Cone RD (1992). „The cloning of a family of genes that encode the melanocortin receptors.”. Science 257 (5074): 1248–51. DOI:10.1126/science.1325670. PMID 1325670.
- Clark AJ, McLoughlin L, Grossman A (1993). „Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor.”. Lancet 341 (8843): 461–2. DOI:10.1016/0140-6736(93)90208-X. PMID 8094489.
- Tsigos C, Arai K, Hung W, Chrousos GP (1993). „Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.”. J. Clin. Invest. 92 (5): 2458–61. DOI:10.1172/JCI116853. PMC 288430. PMID 8227361.
- Gantz I, Tashiro T, Barcroft C, et al. (1994). „Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescence in situ hybridization.”. Genomics 18 (1): 166–7. DOI:10.1006/geno.1993.1448. PMID 8276410.
- Gantz I, Konda Y, Tashiro T, et al. (1993). „Molecular cloning of a novel melanocortin receptor.”. J. Biol. Chem. 268 (11): 8246–50. PMID 8463333.
- Naville D, Barjhoux L, Jaillard C, et al. (1996). „Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.”. J. Clin. Endocrinol. Metab. 81 (4): 1442–8. DOI:10.1210/jc.81.4.1442. PMID 8636348.
- Naville D, Jaillard C, Barjhoux L, et al. (1997). „Genomic structure and promoter characterization of the human ACTH receptor gene.”. Biochem. Biophys. Res. Commun. 230 (1): 7–12. DOI:10.1006/bbrc.1996.5911. PMID 9020063.
- Yang YK, Ollmann MM, Wilson BD, et al. (1997). „Effects of recombinant agouti-signaling protein on melanocortin action.”. Mol. Endocrinol. 11 (3): 274–80. DOI:10.1210/me.11.3.274. PMID 9058374.
- Naville D, Barjhoux L, Jaillard C, et al. (1997). „Stable expression of normal and mutant human ACTH receptor: study of ACTH binding and coupling to adenylate cyclase.”. Mol. Cell. Endocrinol. 129 (1): 83–90. DOI:10.1016/S0303-7207(97)04043-4. PMID 9175632.
- Penhoat A, Naville D, Jaillard C, et al. (1997). „Presence of multiple functional polyadenylation signals in the 3'-untranslated region of human corticotropin receptor cDNA.”. Biochim. Biophys. Acta 1356 (3): 249–52. DOI:10.1016/S0167-4889(97)00031-1. PMID 9194567.
- Ishii T, Ogata T, Sasaki G, et al. (2000). „Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH.”. Clin. Endocrinol. (Oxf) 53 (3): 389–92. DOI:10.1046/j.1365-2265.2000.01040.x. PMID 10971458.
- Flück CE, Martens JW, Conte FA, Miller WL (2002). „Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.”. J. Clin. Endocrinol. Metab. 87 (9): 4318–23. DOI:10.1210/jc.2002-020501. PMID 12213892.
- Swords FM, Baig A, Malchoff DM, et al. (2003). „Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity.”. Mol. Endocrinol. 16 (12): 2746–53. DOI:10.1210/me.2002-0099. PMID 12456795.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). „Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. DOI:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- „Melanocortin Receptors: MC2”. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Arhivirano iz originala na datum 2016-03-03.