ABHD11
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). 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
[edit | edit source]External links
[edit | edit source]- Human ABHD11 genome location and ABHD11 gene details page in the UCSC Genome Browser.
Further reading
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