RNASEH2A

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Ribonuclease H2, subunit A
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols RNASEH2A ; AGS4; JUNB; RNASEHI; RNHIA; RNHL
External IDs OMIM606034 MGI1916974 HomoloGene4664 GeneCards: RNASEH2A Gene
EC number 3.1.26.4
Orthologs
Species Human Mouse
Entrez 10535 69724
Ensembl ENSG00000104889 ENSMUSG00000052926
UniProt O75792 Q9CWY8
RefSeq (mRNA) NM_006397 NM_027187
RefSeq (protein) NP_006388 NP_081463
Location (UCSC) Chr 19:
12.92 – 12.92 Mb
Chr 8:
84.96 – 84.97 Mb
PubMed search [1] [2]

Ribonuclease H2 subunit A, also known as RNase H2 subunit A, is an enzyme that in humans is encoded by the RNASEH2A gene.[1]

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.[1]

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.[1]

References[edit]

Further reading[edit]

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