ABHD5

1-acylglycerol-3-phosphate O-acyltransferase ABHD5 is an is_associated_with::enzyme that in humans is encoded by the ABHD5 is_associated_with::gene.

Function
The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with is_associated_with::Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation.

Model organisms
is_associated_with::Model organisms have been used in the study of ABHD5 function. A conditional is_associated_with::knockout mouse line, called Abhd5tm1a(KOMP)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the is_associated_with::Wellcome Trust Sanger Institute.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty three tests were carried out on is_associated_with::mutant mice but no significant abnormalities were observed.