ABHD11

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. [provided by RefSeq, Jul 2008]

Description

abhydrolase domain containing 11

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

7:q11.23 (73736094 - 73738867)

Ensembl ID

ENSG00000106077  (ver. 84.38)

Orthologs

Mouse Abhd11: ENSMUSG00000040532

UniProt

Q8NFV4

neXtProt

NX_Q8NFV4

Human splice variants
Mouse splice variants