Ribonuclease H2 subunit A, also known as RNase H2 subunit A, is an enzyme that in humans is encoded by the RNASEH2A gene. [5]
Ribonuclease H2 subunit A, also known as RNase H2 subunit A, is an enzyme that in humans is encoded by the RNASEH2A gene. [5]
The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNaseH2). The other two subunits are the non-catalytic RNASEH2B and RNASEH2C. 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. [5]
Mutations in this gene cause Aicardi–Goutières syndrome (AGS), 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. [5]
Ribonuclease H is a family of non-sequence-specific endonuclease enzymes that catalyze the cleavage of RNA in an RNA/DNA substrate via a hydrolytic mechanism. Members of the RNase H family can be found in nearly all organisms, from bacteria to archaea to eukaryotes.
Sodium channel β-subunit4, also known as SCN4B or Naβ4, is an auxiliary sodium channel subunit that can alter the kinetics of sodium channels. The protein is encoded by the SCN4B gene. Mutations in the SCN4B are associated with long QT syndrome.
Three prime repair exonuclease 1 is an enzyme that in humans is encoded by the TREX1 gene.
Ribonuclease inhibitor is an enzyme that in humans is encoded by the RNH1 gene.
Three prime repair exonuclease 2 is an enzyme that in humans is encoded by the TREX2 gene.
Ribonuclease P protein subunit p20 is an enzyme that in humans is encoded by the POP7 gene.
Ribonucleases P/MRP protein subunit POP1 is a protein that in humans is encoded by the POP1 gene.
Ribonuclease P/MRP protein subunit POP5 is an enzyme that in humans is encoded by the POP5 gene.
Ribonuclease P protein subunit p30 is an enzyme that in humans is encoded by the RPP30 gene.
Ribonuclease P protein subunit p14 is an enzyme that in humans is encoded by the RPP14 gene.
Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.
Acetylcholine receptor subunit beta is a protein that in humans is encoded by the CHRNB1 gene.
Ribonuclease 4 is an enzyme that in humans is encoded by the RNASE4 gene.
Voltage-dependent calcium channel gamma-3 subunit is a protein that in humans is encoded by the CACNG3 gene.
LIM domain-containing protein 1 is a protein that in humans is encoded by the LIMD1 gene.
Ribonucleoside-diphosphate reductase large subunit is an enzyme that in humans is encoded by the RRM1 gene.
Ribonuclease H1 also known as RNase H1 is an enzyme that in humans is encoded by the RNASEH1 gene. The RNase H1 is a non-specific endonuclease and catalyzes the cleavage of RNA via a hydrolytic mechanism.
Ribonuclease H2, subunit B is a protein that in humans is encoded by the RNASEH2B gene. RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits, and degrades the RNA of RNA:DNA hybrids. The non-catalytic B subunit of RNase H2 is thought to play a role in DNA replication.
Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin. The majority of affected individuals experience significant intellectual and physical problems, although this is not always the case. The clinical features of AGS can mimic those of in utero acquired infection, and some characteristics of the condition also overlap with the autoimmune disease systemic lupus erythematosus (SLE). Following an original description of eight cases in 1984, the condition was first referred to as 'Aicardi–Goutières syndrome' (AGS) in 1992, and the first international meeting on AGS was held in Pavia, Italy, in 2001.
Ribonuclease H2 subunit C is a protein that in humans is encoded by the RNASEH2C gene. RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits, and degrades the RNA of RNA:DNA hybrids.
 | This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. |