Entrez gene ID | | 10535 |
Official gene symbol | | RNASEH2A |
Full name | | ribonuclease H2, subunit A |
Aliases | | ,AGS4,JUNB,RNASEHI,RNHIA,RNHL, |
Gene summary | | 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. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a 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. |
Location | | Chromosome: 19 Locus: 19p13.2 |
Gene position | | 12917428 - 12924462 Map Viewer |
Gene orientation | | plus |
Gene size | | 7035 bp |
Gene sequence |
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OMIM ID | | 606034 |
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