RNASEH2A, Official Symbol RNASEH2Aprovided by HGNC Official Full Name ribonuclease H2 subunit Aprovided by HGNC Primary source HGNC:HGNC:18518 See related Ensembl:ENSG00000104889 MIM:606034; AllianceGenome:HGNC:18518 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AGS4; JUNB; RNHL; RNHIA; THSD8; RNASEHI 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] Expression Ubiquitous expression in bone marrow (RPKM 7.3), testis (RPKM 7.2) and 25 other tissues See more Orthologs mouse all