RNASEH2B Antibody – Rabbit Polyclonal

RNASEH2B: Non catalytic subunit of RNase H2, 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 RNASEH2B are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). 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 H2 subunit B family.

Protein type: DNA replication; RNA processing

Chromosomal Location of Human Ortholog: 13q14.3

Cellular Component: nucleoplasm; nucleus

Molecular Function: ribonuclease H activity

Biological Process: positive regulation of fibroblast proliferation; ribonucleotide metabolic process; in utero embryonic development; RNA catabolic process; regulation of G2/M transition of mitotic cell cycle

Disease: Aicardi-goutieres Syndrome 2