Aliases for RNASEH2A Gene
External Ids for RNASEH2A Gene
Previous GeneCards Identifiers for RNASEH2A Gene
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]
GeneCards Summary for RNASEH2A Gene
RNASEH2A (Ribonuclease H2 Subunit A) is a Protein Coding gene. Diseases associated with RNASEH2A include Aicardi-Goutieres Syndrome 4 and Aicardi-Goutieres Syndrome 1, Dominant And Recessive. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis. GO annotations related to this gene include nucleic acid binding and ribonuclease activity.
UniProtKB/Swiss-Prot for RNASEH2A Gene
Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.