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Official Full Name: 1-acylglycerol-3-phosphate O-acyltransferase 2
Also known as: BSCL; BSCL1; LPAAB; LPLAT2; 1-AGPAT2; LPAAT-beta
This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. Located within the membrane of the endoplasmic reticulum, this protein converts lysophosphatidic acid to phosphatidic acid, the second step in phospholipid biosynthesis. Mutations in this gene are associated with either congenital generalized lipodystrophy (CGL) or Berardinelli-Seip syndrome, a disorder characterized by near loss of fat tissue and severe insulin resistance. Alternative transcriptional splice variants encoding different isoforms have been characterized.