Aliases for ABHD5 Gene
External Ids for ABHD5 Gene
Previous GeneCards Identifiers for ABHD5 Gene
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]
GeneCards Summary for ABHD5 Gene
ABHD5 (Abhydrolase Domain Containing 5) is a Protein Coding gene. Diseases associated with ABHD5 include Chanarin-Dorfman Syndrome and Neutral Lipid Storage Disease With Myopathy. Among its related pathways are Metabolism and triacylglycerol biosynthesis. GO annotations related to this gene include peptidase activity and 1-acylglycerol-3-phosphate O-acyltransferase activity. An important paralog of this gene is ABHD4.
UniProtKB/Swiss-Prot for ABHD5 Gene
Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis (PubMed:18606822). May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 (PubMed:16679289). Involved in keratinocyte differentiation (PubMed:18832586). Regulates lipid droplet fusion (By similarity).