ABHD5 Background Information
Alpha/beta-hydrolase domains are characterized by a catalytic triad composed of a histidine, an acid and a nucleophile. ABHD5 (abhydrolase domain containing 5), also known as CGI-58, NCIE2 or CDS, is a 349 amino acid protein that contains an alpha/beta-hydrolase domain through which it conveys catalytic function. Localized to the surface of lipid droplets, ABHD5 is widely expressed and interacts with Perilipin on the surface of lipid droplets where it facilitates lipolysis, the breakdown of fat. Defects in the gene encoding ABHD5 are the cause of Chanarin-Dorfman syndrome (CDS), an autosomal recessive inborn error of lipid metabolism with impaired long-chain fatty acid oxidation. CDS symptoms include congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay.
