ABHD11

Chr 7

abhydrolase domain containing 11

Also known as: PP1226, WBSCR21

NCBI Gene: 83451 ENSG00000106077 UniProt: Q8NFV4

The protein catalyzes the hydrolysis of diacylglycerol to regulate lipid metabolism and maintains functional lipoylation of the 2-oxoglutarate dehydrogenase complex. ABHD11 is deleted in Williams syndrome, a multisystem developmental disorder caused by contiguous gene deletions at 7q11.23, with autosomal dominant inheritance. The gene shows low constraint against loss-of-function variants (pLI 0.003), suggesting that isolated ABHD11 mutations may not cause significant disease phenotypes.

ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Mar 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.94

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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