The ABHD12B protein is a member of the serine esterase family and is involved in various biochemical processes . It is predicted to have acylglycerol lipase activity, lysophospholipase activity, and palmitoyl-(protein) hydrolase activity . These activities suggest that ABHD12B plays a role in the catabolism of monoacylglycerol and phosphatidylserine, which are important for lipid metabolism and cell signaling .
The human recombinant form of ABHD12B is produced in Escherichia coli (E. coli) and is a single, non-glycosylated polypeptide chain containing 278 amino acids . It has a molecular mass of approximately 31.0 kDa and is fused to a 23 amino acid His-tag at the N-terminus to facilitate purification .
ABHD12B is predicted to be active in the endoplasmic reticulum membrane, where it may participate in lipid metabolism and signaling pathways . The protein’s hydrolase activity is crucial for maintaining cellular lipid homeostasis, which is essential for various cellular functions, including membrane fluidity, energy storage, and signal transduction .
Mutations or dysregulation of the ABHD12B gene have been associated with Chanarin-Dorfman Syndrome, a rare genetic disorder characterized by the accumulation of lipid droplets in various tissues . This association underscores the importance of ABHD12B in lipid metabolism and its potential role in human health and disease.
The recombinant form of ABHD12B is used in various research applications to study its enzymatic properties and biological functions. It is also utilized in the development of assays to screen for potential inhibitors or activators of its enzymatic activity . Understanding the function and regulation of ABHD12B can provide insights into lipid metabolism disorders and aid in the development of therapeutic strategies.