ABHD5 Antibody – Mouse Monoclonal

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 Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]

ABHD5: a lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation. Colocalized with PLIN and ADFP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA. Defects cause neutral lipid storage disease (NLSD), an autosomal recessive disorder characterized by the excessive accumulation of neutral lipids in multiple tissues, and Chanarin-Dorfman syndrome (CDS), a triglyceride storage disease with impaired long-chain fatty acid oxidation and icthyosis. CDS is an autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons.

Protein type: EC 2.3.1.51; Transferase; Lipase

Chromosomal Location of Human Ortholog: 3p21

Cellular Component: intracellular membrane-bound organelle; cytoplasm; lipid particle; nucleus; cytosol

Molecular Function: triacylglycerol lipase activity; lysophosphatidic acid acyltransferase activity; 1-acylglycerol-3-phosphate O-acyltransferase activity

Biological Process: triacylglycerol catabolic process; positive regulation of lipoprotein lipase activity; phosphatidic acid biosynthetic process; cell differentiation; fatty acid metabolic process

Disease: Chanarin-dorfman Syndrome