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RNASEH2A 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.
Gene Name: | ribonuclease H2, subunit A |
Synonyms: | RNASEH2A, AGS4, Aicardi-Goutieres syndrome 4, Ribonuclease HI, large subunit, Ribonuclease HI large subunit, RNase H(35), RNase H2 subunit A, RNase HI large subunit, RNHIA, RNHL, Ribonuclease H2, large subunit, Ribonuclease HI subunit A, RNASEHI, Ribonuclease H2 subunit A, Ribonuclease H2, subunit A |
Target Sequences: | NM_006397 NP_006388.2 O75792 |
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