RNASEH2C
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Ribonuclease H2 subunit C is a protein that in humans is encoded by the RNASEH2C gene.
{{cite web
| title = Entrez Gene: Ribonuclease H2 subunit C
| url = https://www.ncbi.nlm.nih.gov/gene/84153
| access-date = 2017-02-27
}} 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).{{cite journal | vauthors = Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Déry C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martínez-Frías ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP | display-authors = 6 | title = Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection | journal = Nature Genetics | volume = 38 | issue = 8 | pages = 910–6 | date = Aug 2006 | pmid = 16845400 | doi = 10.1038/ng1842 | s2cid = 8076225 }}
Function
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
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Further reading
{{refbegin | 2}}
- {{cite journal |vauthors=Behlke MA, Bogan JS, Beer-Romero P, Page DC |title=Evidence that the SRY protein is encoded by a single exon on the human Y chromosome |journal=Genomics |volume=17 |issue=3 |pages=736–9 |year=1993 |pmid=8244390 |doi=10.1006/geno.1993.1395 }}
- {{cite journal |vauthors=Chon H, Vassilev A, DePamphilis ML, Zhao Y, Zhang J, Burgers PM, Crouch RJ, Cerritelli SM |title=Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex |journal=Nucleic Acids Res. |volume=37 |issue=1 |pages=96–110 |year=2009 |pmid=19015152 |pmc=2615623 |doi=10.1093/nar/gkn913 }}
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External links
- {{PDBe-KB2|Q8TDP1|Human Ribonuclease H2 subunit C (RNASEH2C)}}
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