Full name: ribonuclease H2 subunit A

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AGS4; JUNB; RNASEHI; RNHIA; RNHL; THSD8

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

Gene size: 7057bp

Exon count: 8