ABHD11

Abhydrolase domain-containing protein 11 also known as Williams-Beuren syndrome chromosomal region 21 protein (WBSCR21) is an is_associated_with::enzyme that in humans is encoded by the ABHD11 is_associated_with::gene.

This gene encodes a protein containing an is_associated_with::alpha/beta hydrolase fold domain. This gene is deleted in is_associated_with::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.