AGPAT2
AGPAT2
A gene on chromosome 9q34.3 that encodes 1-acylglycerol-3-phosphate O-acyltransferase 2, a member of the 1-acylglycerol-3-phosphate O-acyltransferase family, which is located in the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in phospholipid biosynthesis.Molecular pathology
AGPAT2 mutations cause congenital generalised lipodystrophy (Berardinelli Seip syndrome) type 1.