DefinitionThis section has been translated automatically.
The RNASEH2C gene (RNASEH2C stands for "ribonuclease H2 subunit C") is a protein coding gene located on 11q13.1. Several transcript variants encoding different isoforms have been found for this gene.
The protein encoded by "ribonuclease H2 subunit C" is one of the two non-catalytic subunits of RNase H2. RNase H2, an endonuclease consists of a single catalytic subunit (A) and two non-catalytic subunits (B and C). It specifically degrades RNA from RNA:DNA hybrids. It is thought to play a role in DNA replication, possibly by mediating the removal of Okazaki fragment RNA primers from the residual strand during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.
Defects in this gene are a cause of Aicardi-Goutières syndrome type 3 (AGS3). Other mutations for this syndrome have been detected in the TREX1, RNASEH2A, RNASEH2C, SAMHD1, ADAR, or IFIH1 genes (Crow YJ et al. 2015).
LiteratureThis section has been translated automatically.
- Crow YJ et al (2015) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, SAMHD1, ADAR, and IFIH1. Am J Med Genet A 167A:296-312.
