RNASEH2C
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value).
Ribonuclease H2 subunit C is a protein that in humans is encoded by the RNASEH2C gene. [1] RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C), and degrades the RNA of RNA:DNA hybrids.
Mutations in this gene are a cause of Aicardi-Goutieres syndrome type 3 (AGS3).[1][2]
Function
[edit | edit source]This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene.
References
[edit | edit source]Further reading
[edit | edit source]- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
External links
[edit | edit source]- Overview of all the structural information available in the PDB for UniProt: Q8TDP1 (Human Ribonuclease H2 subunit C (RNASEH2C)) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.