Recombinant Human Ribonuclease H2 subunit A (RNASEH2A)

Uniprot Id

O75792

Target Species

Human

Target Name

RNASEH2A

Target Full Name

Ribonuclease H2 subunit A

Target Function

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.

Target Involvement

Aicardi-Goutieres syndrome 4 (AGS4)

Target Subcellular Location

Nucleus.

Target Protein Families

RNase HII family, Eukaryotic subfamily

Target Synonyms

RNASEH2A; RNASEHI; RNHIA; Ribonuclease H2 subunit A; RNase H2 subunit A; EC 3.1.26.4; Aicardi-Goutieres syndrome 4 protein; AGS4; RNase H(35); Ribonuclease HI large subunit; RNase HI large subunit; Ribonuclease HI subunit A

Target Background

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.