AGPAT2 Antibody – Rabbit Polyclonal

AGPAT2: Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Defects in AGPAT2 are the cause of congenital generalized lipodystrophy type 1 (CGL1); also known as Berardinelli-Seip congenital lipodystrophy type 1 (BSCL1) or Berardinelli-Seip syndrome. CGL1 is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.3.1.51; Membrane protein, integral; Lipid Metabolism - ether lipid; Membrane protein, multi-pass; Lipid Metabolism - glycerophospholipid; Lipid Metabolism - glycerolipid; Transferase

Chromosomal Location of Human Ortholog: 9q34.3

Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; integral to membrane

Molecular Function: 1-acylglycerol-3-phosphate O-acyltransferase activity

Biological Process: positive regulation of cytokine production; epidermis development; phospholipid metabolic process; glycerophospholipid biosynthetic process; phosphatidic acid biosynthetic process; triacylglycerol biosynthetic process; cellular lipid metabolic process; positive regulation of cytokine and chemokine mediated signaling pathway; CDP-diacylglycerol biosynthetic process

Disease: Lipodystrophy, Congenital Generalized, Type 1