Aliases for AGPAT2 Gene
External Ids for AGPAT2 Gene
Previous HGNC Symbols for AGPAT2 Gene
Previous GeneCards Identifiers for AGPAT2 Gene
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]
GeneCards Summary for AGPAT2 Gene
AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2) is a Protein Coding gene. Diseases associated with AGPAT2 include lipodystrophy, congenital generalized, type 1 and congenital generalized lipodystrophy. Among its related pathways are Integrated Pancreatic Cancer Pathway and Metabolism. GO annotations related to this gene include 1-acylglycerol-3-phosphate O-acyltransferase activity. An important paralog of this gene is AGPAT1.
UniProtKB/Swiss-Prot for AGPAT2 Gene
Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.