NP_006388.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
33,395 Da
NCBI Official Full Name
ribonuclease H2 subunit A
NCBI Official Synonym Full Names
ribonuclease H2 subunit A
NCBI Official Synonym Symbols
AGS4; JUNB; RNHL; RNHIA; RNASEHI [Similar Products]
NCBI Protein Information
ribonuclease H2 subunit A
UniProt Protein Name
Ribonuclease H2 subunit A
UniProt Synonym Protein Names
Aicardi-Goutieres syndrome 4 protein; AGS4; RNase H(35); Ribonuclease HI large subunit; RNase HI large subunit; Ribonuclease HI subunit A
UniProt Synonym Gene Names
RNASEHI; RNHIA; RNase H2 subunit A; AGS4; RNase HI large subunit [Similar Products]
NCBI Summary for RNASEH2A
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]
UniProt Comments for RNASEH2A
RNASEH2A: 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. Defects in RNASEH2A are the cause of Aicardi-Goutieres syndrome type 4 (AGS4). A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. Belongs to the RNase HII family. Eukaryotic subfamily.
Protein type: DNA replication; EC 3.1.26.4; Ribonuclease
Chromosomal Location of Human Ortholog: 19p13.13
Cellular Component: cytoplasm; nucleoplasm
Molecular Function: ribonuclease activity; ribonuclease H activity
Biological Process: DNA replication; DNA replication, removal of RNA primer; mismatch repair; RNA catabolic process
Disease: Aicardi-goutieres Syndrome 4
Research Articles on RNASEH2A
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Products associated with anti-RNASEH2A antibody
Pathways associated with anti-RNASEH2A antibody
Diseases associated with anti-RNASEH2A antibody
Organs/Tissues associated with anti-RNASEH2A antibody
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