ABHD5


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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.
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References in periodicals archive ?
Thus, mutation in the CGI-58 gene (ABHD5 gene) interferes with lipolysis and leads to accumulation of lipid droplets and, consequently, CDS.
19385 -2.17 ABHD5 abhydrolase domain containing 5 Hs.344400 -2.19 MPHOSPH6 M-phase phosphoprotein 6 Hs.411311 -2.17 IL24 interleukin 24 Hs.492236 -2.17 H326 H326 Hs.255432 -2.06 CIB3 calcium and integrin binding family member 3 Hs.476052 -2.02 SNRK SNF-1 related kinase Hs.432898 -2.01 MAP3K13 mitogen-activated protein kinase kinase kinase 13 Only genes with known protein products are shown.
Major genes networks centered on the apolipoprotein A-I (APOA1), abhydrolase domain containing 5 (ABHD5), actin, alpha, cardiac muscle 1 (ACTC1), sorbin and SH3 domain containing 1 (SORBS1), and carboxypeptidase E (CPE) genes.