ABHD11

ABHD11
Identifiers
AliasesABHD11, WBSCR21, PP1226, abhydrolase domain containing 11
External IDsMGI: 1916008; HomoloGene: 5961; GeneCards: ABHD11; OMA:ABHD11 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

83451

68758

Ensembl

ENSG00000106077

ENSMUSG00000040532

UniProt

Q8NFV4

Q8K4F5

RefSeq (mRNA)

NM_001190437
NM_145215

RefSeq (protein)

NP_001177366
NP_660250

Location (UCSC)Chr 7: 73.74 – 73.74 MbChr 5: 135.04 – 135.04 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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.