ABHD11
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Abhydrolase domain-containing protein 11 also known as Williams-Beuren syndrome chromosomal region 21 protein (WBSCR21) is an enzyme that in humans is encoded by the ABHD11 gene.{{cite journal | vauthors = Merla G, Ucla C, Guipponi M, Reymond A | title = Identification of additional transcripts in the Williams-Beuren syndrome critical region | journal = Hum Genet | volume = 110 | issue = 5 | pages = 429–38 |date=Jun 2002 | pmid = 12073013 | doi = 10.1007/s00439-002-0710-x | s2cid = 29964959 }}{{cite web | title = Entrez Gene: ABHD11 abhydrolase domain containing 11| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83451}}
This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
References
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External links
- {{UCSC gene info|ABHD11}}
Further reading
{{refbegin | 2}}
- {{cite journal | vauthors=Mehrle A, Rosenfelder H, Schupp I |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 |display-authors=etal}}
- {{cite journal | vauthors=Wan D, Gong Y, Qin W |title=Large-scale cDNA transfection screening for genes related to cancer development and progression. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 44 |pages= 15724–9 |year= 2004 |pmid= 15498874 |doi= 10.1073/pnas.0404089101 | pmc=524842 |bibcode=2004PNAS..10115724W |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Wiemann S, Arlt D, Huber W |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 |display-authors=etal}}
- {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |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 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
- {{cite journal | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 | pmc=310948 }}
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{{Esterases}}
{{Enzymes}}
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{{DEFAULTSORT:Abhd11}}
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