Gene Symbol | RNASEH2A |
Entrez Gene ID | 10535 |
Full Name | ribonuclease H2 subunit A |
Synonyms | AGS4,JUNB,RNASEHI,RNHIA,RNHL |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Aug 2009]. |
Disorder MIM: | |
Disorder Html: | Aicardi-Goutieres syndrome 4, 610333 (3) |