Abhd5: Proteins and Enzymes

Abhydrolase domain containing 5 (ABHD5) belongs to a very large protein family which contains an alpha/beta hydrolase fold. ABHD5 also contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. Abhd 5 is distinct from other members of this subfamily because the putative catalytic triad contains an asparagine rather than a serine residue.

ABHD5 is a lysophosphatidic acid acyltransferase with a role in phosphatidic acid biosynthesis. ABHD5 may also help regulate cellular storage of triacylglycerol by activating the phospholipase PNPLA2. Additionaly, the ABHD5 protein is thought to play a role in keratinocyte differentiation.

Mutations in this gene are associated with Chanarin-Dorfman syndrome, a triglyceride storage disease characterized by impaired oxidation of long-chain fatty acids. Abhd5 is expressed in many tissues, including brain, liver, skin, skeletal muscle and lymphocytes.