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AGPAT2 is 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.
Gene Name: | 1-acylglycerol-3-phosphate O-acyltransferase 2 |
Synonyms: | AGPAT2, 1-AGPAT2, 1-AGPAT 2, 1-AGP acyltransferase 2, BSCL, BSCL1, LPAAB, LPAAT-beta |
Target Sequences: | NM_006412 NP_006403.2 O15120 |
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