基因名:
AGPAT2
产品别名:
1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta; AGPAT2; 1-acylglycerol-3-phosphate O-acyltransferase 2; 1-acylglycerol-3-phosphate O-acyltransferase 2; 1-acyl-sn-glycerol-3-phosphate acyltransferase beta; 1-AGP acyltransferase 2; 1-AGPAT 2; 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta); lysophosphatidic acid acyltransferase-beta; testicular tissue protein Li 143; 溶血磷脂酸酰基转移酶β;
背景信息:
Agpat2 is a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. It is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in its 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.