RNASEH2A

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RNASEH2A
3puf highlight subunit A.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRNASEH2A, AGS4, JUNB, RNASEHI, RNHIA, RNHL, ribonuclease H2 subunit A, THSD8
External IDsMGI: 1916974 HomoloGene: 4664 GeneCards: RNASEH2A
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for RNASEH2A
Genomic location for RNASEH2A
Band19p13.13Start12,806,556 bp[1]
End12,815,201 bp[1]
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 – 12.82 MbChr 8: 84.96 – 84.97 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-Goutieres 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: ENSG00000104889 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052926 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b c "Entrez Gene: ribonuclease H2".

Further reading[edit]

External links[edit]