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abhd11

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Official Full Name
abhydrolase domain containing 11
Background
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.
Synonyms
ABHD11; abhydrolase domain containing 11; WBSCR21, Williams Beuren syndrome chromosome region 21; abhydrolase domain-containing protein 11; PP1226; WBSCR21; Williams-Beuren syndrome chromosomal region 21 protein; Williams Beuren syndrome chromosome region 21; Wbscr21l; alpha/beta hydrolase domain-containing protein 11