RNASEH2A

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RNASEH2A
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RNASEH2A, AGS4, JUNB, RNASEHI, RNHIA, RNHL, ribonuclease H2 subunit A
External IDs MGI: 1916974 HomoloGene: 4664 GeneCards: 10535
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006397

NM_027187

RefSeq (protein)

NP_006388.2

NP_006388.2
NP_081463.1

Location (UCSC) Chr 19: 12.81 – 12.81 Mb Chr 8: 84.96 – 84.97 Mb
PubMed search [1] [2]
Wikidata
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Ribonuclease H2 subunit A, also known as RNase H2 subunit A, is an enzyme that in humans is encoded by the RNASEH2A gene.[3]

Function[edit]

The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). 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.[3]

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.[3]

References[edit]

Further reading[edit]

External links[edit]