ABHD11 explained

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]

Further reading

• Mehrle A, Rosenfelder H, Schupp I . The LIFEdb database in 2006. . Nucleic Acids Res. . 34 . Database issue . D415–8 . 2006 . 16381901 . 10.1093/nar/gkj139 . 1347501 . etal.
• Wan D, Gong Y, Qin W . 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 . 15498874 . 10.1073/pnas.0404089101 . 524842 . 2004PNAS..10115724W . etal. free .
• Wiemann S, Arlt D, Huber W . From ORFeome to biology: a functional genomics pipeline. . Genome Res. . 14 . 10B . 2136–44 . 2004 . 15489336 . 10.1101/gr.2576704 . 528930 . etal.
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination. . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .

Notes and References

1. Merla G, Ucla C, Guipponi M, Reymond A . Identification of additional transcripts in the Williams-Beuren syndrome critical region . Hum Genet . 110 . 5 . 429–38 . Jun 2002 . 12073013 . 10.1007/s00439-002-0710-x . 29964959 .
2. Web site: Entrez Gene: ABHD11 abhydrolase domain containing 11.