Jump to content

RNASEH2A

From Wikipedia, the free encyclopedia
RNASEH2A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRNASEH2A, AGS4, JUNB, RNASEHI, RNHIA, RNHL, ribonuclease H2 subunit A, THSD8
External IDsOMIM: 606034; MGI: 1916974; HomoloGene: 4664; GeneCards: RNASEH2A; OMA:RNASEH2A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006397

NM_027187
NM_001364370

RefSeq (protein)

NP_006388

NP_081463
NP_001351299

Location (UCSC)Chr 19: 12.81 – 12.81 MbChr 8: 85.68 – 85.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ribonuclease H2 subunit A, also known as RNase H2 subunit A, is an enzyme that in humans is encoded by the RNASEH2A gene.[5]

Function

[edit]

The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNaseH2). The other two subunits are the non-catalytic RNASEH2B and RNASEH2C. RNaseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes.[5]

Clinical significance

[edit]

Mutations in this gene cause Aicardi–Goutières syndrome (AGS), an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[5]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104889Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052926Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: ribonuclease H2".

Further reading

[edit]
[edit]