ABHD5
ABHD5
A gene on chromosome 3p25.3-p24.3 that encodes a member of a large family of proteins defined by an alpha/beta hydrolase fold, which play a role in phosphatidic acid biosynthesis and keratinocyte differentiation. ABHD5 may regulate cell storage of triacylglycerol by activating PNPLA2, a phospholipase.Molecular pathology
ABHD5 mutations cause neutral lipid storage disease (Chanarin-Dorfman syndrome), a triglyceride storage disease with defective long-chain fatty acid oxidation.