AGPAT2, Official Symbol AGPAT2provided by HGNC Official Full Name 1-acylglycerol-3-phosphate O-acyltransferase 2provided by HGNC Primary source HGNC:HGNC:325 See related Ensembl:ENSG00000169692 MIM:603100; AllianceGenome:HGNC:325 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BSCL; BSCL1; LPAAB; LPLAT2; 1-AGPAT2; LPAAT-beta Summary 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] Expression Biased expression in fat (RPKM 221.4), small intestine (RPKM 55.9) and 8 other tissues See more Orthologs mouse all