Protein-coding gene in the species Homo sapiens
Ribonuclease H2 subunit C is a protein that in humans is encoded by the RNASEH2C gene.
[5] 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).[5][6]
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.
- ^ a b c GRCh38: Ensembl release 89: ENSG00000172922 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024925 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b
"Entrez Gene: Ribonuclease H2 subunit C". Retrieved 2017-02-27.
- ^ Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, et al. (Aug 2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection". Nature Genetics. 38 (8): 910–6. doi:10.1038/ng1842. PMID 16845400. S2CID 8076225.
- Behlke MA, Bogan JS, Beer-Romero P, Page DC (1993). "Evidence that the SRY protein is encoded by a single exon on the human Y chromosome". Genomics. 17 (3): 736–9. doi:10.1006/geno.1993.1395. PMID 8244390.
- Chon H, Vassilev A, DePamphilis ML, Zhao Y, Zhang J, Burgers PM, Crouch RJ, Cerritelli SM (2009). "Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex". Nucleic Acids Res. 37 (1): 96–110. doi:10.1093/nar/gkn913. PMC 2615623. PMID 19015152.
- 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.
