LPAAT-β Background Information
Phosphatidic acid and lysophosphatidic acid are phospholipids involved in lipid biosynthesis and signal transduction. LPAAT-∫ (lysophosphatidic acid acyltransferase, beta), also known as AGPAT2, BSCL, BSCL1, LPAAB or 1-AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2), is a multi-pass membrane protein localized to the endoplasmic reticulum that catalyzes the synthesis of phosphatidic acid from lysophosphatidic acid. Predominantly expressed in heart and liver, LPAAT-∫ belongs to the LPAAT family of proteins that have a well-known role in lipid biosynthesis. In addition, LPAAT family members may also play a role in tumor progression. Mutations in the gene encoding LPAAT-∫ can result in the autosomal recessive disorder CGL1 (congenital generalized lipodystrophy type 1). CGL1, also known as Berardinelli-Seip congenital lipodystrophy type 1 (BSCL1), is a disorder characterized by insulin resistance, early onset of diabetes, hepatic steatosis, scarcity of adipose tissue and hypertriglyceridemia.
