ABHD5 Gene

The ABHD5 gene (ABHD5 stands for Abhydrolase Domain Containing 5, Lysophosphatidic Acid Acyltransferase) is a protein coding gene located on chromosome 3p21.33. 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 corresponding 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 a serine residue. Associated metabolic pathways include lipoprotein metabolism and triacylglycerol biosynthesis.

Coenzyme A-dependent lysophosphatidic acid acyltransferase catalyzes the transfer of an acyl group to a lysophosphatidic acid. Preferentially functions with 1-oleyl lysophosphatidic acid, followed by 1-palmitoyl lysophosphatidic acid, 1-stearoyl lysophosphatidic acid, and 1-arachidonoyl lysophosphatidic acid as lipid acceptors. Is involved in the differentiation of keratinocytes.

Mutations in this gene are associated with Chanarin-Dorfman syndrome, a triglyceride storage disorder with impaired oxidation of long-chain fatty acids.

1. Cakmak E et al (2012) Chanarin-Dorfman syndrome: A comprehensive review. Liver Int 41: 905-914.
2. Yang A et al. (2020) Adipocyte lipolysis: from molecular mechanisms of regulation to disease and therapeutics. Biochem J 477: 985-1008.