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ABHD11 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.
Gene Name: | abhydrolase domain containing 11 |
Synonyms: | ABHD11, WBSCR21, PP1226 |
Target Sequences: | NM_031295 NP_001138835.1 Q8NFV4 |
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