1-Acylglycerol-3-Phosphate-O-Acyltransferase 2 (AGPAT2)
1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-Beta; Lysophosphatidic Acid Acyltransferase,Beta; Berardinelli-Seip Congenital Lipodystrophy
is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.The predicted LPAAT-beta protein is 278 amino acids long. Overall, the sequences of the 2 human proteins are 12% identical to the sequence of yeast LPAAT. LPAAT-beta is expressed in a distinct tissue-specific pattern, with the highest levels of expression observed in liver and heart.