Entrez 83451 | Ensembl ENSG00000106077 | |
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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(Text) CC BY-SA