Description
Product Characteristics:
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.
Subcellular location: Cell membrane
Synonyms: LPAAB, BSCL, BSCL1, EC 2.3.1.51, LPAAB, LPAAT beta, Lysophosphatidic acid acyltransferase beta, 1 acyl sn glycerol 3 phosphate acyltransferase beta, 1 acylglycerol 3 phosphate O acyltransferase 2, 1 AGP acyltransferase 2, 1 AGPAT2 antibody Berardinelli Seip congenital lipodystrophy.PLCB_HUMAN
Target Information: This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein 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. [provided by RefSeq, Jul 2008]