sn-1-specific diglyceride lipase ABHD11 also known as Williams-Beuren syndrome chromosomal region 21 protein (WBSCR21) is an enzyme that in humans is encoded by the ABHD11 gene, This lipase enzyme is thought to regulate lipid metabolism by controlling the amount of diglyceride inside of cells.
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.
Gene symbol The gene ABHD11 has also been called "Abhydrolase domain-containing 11" ("Alpha/beta hydrolase domain-containing 11") which explains its gene symbol.
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