Biology:ABHD11
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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.[1][2]
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.[2]
References
- ↑ "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet 110 (5): 429–38. Jun 2002. doi:10.1007/s00439-002-0710-x. PMID 12073013.
- ↑ 2.0 2.1 "Entrez Gene: ABHD11 abhydrolase domain containing 11". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83451.
External links
- Human ABHD11 genome location and ABHD11 gene details page in the UCSC Genome Browser.
Further reading
- "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. 2006. doi:10.1093/nar/gkj139. PMID 16381901.
- "Large-scale cDNA transfection screening for genes related to cancer development and progression.". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. 2004. doi:10.1073/pnas.0404089101. PMID 15498874. Bibcode: 2004PNAS..10115724W.
- "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. 2004. doi:10.1101/gr.2576704. PMID 15489336.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. 2001. doi:10.1101/gr.143000. PMID 11076863.
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