Trisha Shetty

ABHD11

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Species  Human
Entrez  83451
Human  Mouse
Ensembl  ENSG00000106077
ABHD11
Aliases  ABHD11, WBSCR21, PP1226, abhydrolase domain containing 11
External IDs  MGI: 1916008 HomoloGene: 5961 GeneCards: ABHD11

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

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.

References

ABHD11 Wikipedia


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