| 释义 |
- Function
- Clinical significance
- References
- Further reading
- External links
{{Infobox_gene}}Ribonuclease H2 subunit A, also known as RNase H2 subunit A, is an enzyme that in humans is encoded by the RNASEH2A gene.[1] Function 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.[1] Clinical significance Mutations in this gene cause Aicardi-Goutieres 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.[1] References 1. ^1 2 {{cite web | title = Entrez Gene: ribonuclease H2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10535| accessdate = }}
Further reading {{refbegin | 2}}- {{cite journal |vauthors=Crow YJ, Leitch A, Hayward BE, etal |title=Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. |journal=Nat. Genet. |volume=38 |issue= 8 |pages= 910–6 |year= 2006 |pmid= 16845400 |doi= 10.1038/ng1842 }}
- {{cite journal |vauthors=Chon H, Vassilev A, DePamphilis ML, etal |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 }}
- {{cite journal |vauthors=Flanagan JM, Funes JM, Henderson S, etal |title=Genomics screen in transformed stem cells reveals RNASEH2A, PPAP2C, and ADARB1 as putative anticancer drug targets |journal=Mol. Cancer Ther. |volume=8 |issue= 1 |pages= 249–60 |year= 2009 |pmid= 19139135 |doi= 10.1158/1535-7163.MCT-08-0636 }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |pmc=528928 |doi= 10.1101/gr.2596504 }}
- {{cite journal |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1996 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
- {{cite journal |vauthors=Rice G, Patrick T, Parmar R, etal |title=Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome |journal=Am. J. Hum. Genet. |volume=81 |issue= 4 |pages= 713–25 |year= 2007 |pmid= 17846997 |pmc=2227922 |doi= 10.1086/521373 }}
- {{cite journal |vauthors=Frank P, Braunshofer-Reiter C, Wintersberger U, etal |title=Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 22 |pages= 12872–7 |year= 1998 |pmid= 9789007 |pmc=23637 |doi=10.1073/pnas.95.22.12872 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |pmc=139241 |doi= 10.1073/pnas.242603899 }}
- {{cite journal |vauthors=Ganesh SK, Zakai NA, van Rooij FJ, etal |title=Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium |journal=Nat. Genet. |volume=41 |issue= 11 |pages= 1191–8 |year= 2009 |pmid= 19862010 |pmc=2778265 |doi= 10.1038/ng.466 }}
{{refend}}External links- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ags GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome]
- [https://www.ncbi.nlm.nih.gov/omim/225750,606034,606609,610181,610326,610329,610330,610333,225750,606034,606609,610181,610326,610329,610330,610333 OMIM entries on Aicardi-Goutieres syndrome]
{{Esterases}}{{gene-19-stub}} |