3P56, 3PUF
10535
69724
ENSG00000104889
ENSMUSG00000052926
O75792
Q9CWY8
NM_006397
NM_027187NM_001364370
NP_006388
NP_081463NP_001351299
Ribonuclease H2 subunit A, also known as RNase H2 subunit A, is an enzyme that in humans is encoded by the RNASEH2A gene.[5]
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]
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]
This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.
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