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ABHD11
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.〔(【引用サイトリンク】 url = http://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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