AGPAT2 explained

1-acyl-sn-glycerol-3-phosphate acyltransferase beta is an enzyme that in humans is encoded by the AGPAT2 gene.^{[1] [2] [3]}

Function

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, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Further reading

• Garg A . Acquired and inherited lipodystrophies . The New England Journal of Medicine . 350 . 12 . 1220–34 . Mar 2004 . 15028826 . 10.1056/NEJMra025261 .
• Stamps AC, Elmore MA, Hill ME, Kelly K, Makda AA, Finnen MJ . A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases . The Biochemical Journal . 326 . 2 . 455–61 . Sep 1997 . 9291118 . 1218691 . 10.1042/bj3260455.
• Aguado B, Campbell RD . Characterization of a human lysophosphatidic acid acyltransferase that is encoded by a gene located in the class III region of the human major histocompatibility complex . The Journal of Biological Chemistry . 273 . 7 . 4096–105 . Feb 1998 . 9461603 . 10.1074/jbc.273.7.4096 . free .
• Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O'Rahilly S, Taylor SI, Patel SB, Bowcock AM . A gene for congenital generalized lipodystrophy maps to human chromosome 9q34 . The Journal of Clinical Endocrinology and Metabolism . 84 . 9 . 3390–4 . Sep 1999 . 10487716 . 10.1210/jcem.84.9.6103 .
• Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A . AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34 . Nature Genetics . 31 . 1 . 21–3 . May 2002 . 11967537 . 10.1038/ng880 . free .
• Simha V, Garg A . Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes . The Journal of Clinical Endocrinology and Metabolism . 88 . 11 . 5433–7 . Nov 2003 . 14602785 . 10.1210/jc.2003-030835 . free .
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW . Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation . Nature Biotechnology . 22 . 6 . 707–16 . Jun 2004 . 15146197 . 10.1038/nbt971 . 27764390 .
• Fu M, Kazlauskaite R, Baracho Mde F, Santos MG, Brandão-Neto J, Villares S, Celi FS, Wajchenberg BL, Shuldiner AR . Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects . The Journal of Clinical Endocrinology and Metabolism . 89 . 6 . 2916–22 . Jun 2004 . 15181077 . 3390418 . 10.1210/jc.2003-030485 .
• Haque W, Garg A, Agarwal AK . Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy . Biochemical and Biophysical Research Communications . 327 . 2 . 446–53 . Feb 2005 . 15629135 . 10.1016/j.bbrc.2004.12.024 .
• Niesporek S, Denkert C, Weichert W, Köbel M, Noske A, Sehouli J, Singer JW, Dietel M, Hauptmann S . Expression of lysophosphatidic acid acyltransferase beta (LPAAT-beta) in ovarian carcinoma: correlation with tumour grading and prognosis . British Journal of Cancer . 92 . 9 . 1729–36 . May 2005 . 15841084 . 2362024 . 10.1038/sj.bjc.6602528 .
• Gomes KB, Pardini VC, Ferreira AC, Fernandes AP . Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients . Journal of Inherited Metabolic Disease . 28 . 6 . 1123–31 . 2006 . 16435205 . 10.1007/s10545-005-0038-5 . 2333336 . free .
• Lloyd EE, Gaubatz JW, Burns AR, Pownall HJ . Sustained elevations in NEFA induce cyclooxygenase-2 activity and potentiate THP-1 macrophage foam cell formation . Atherosclerosis . 192 . 1 . 49–55 . May 2007 . 16870193 . 10.1016/j.atherosclerosis.2006.06.014 .

Notes and References

1. Eberhardt C, Gray PW, Tjoelker LW . Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3 . The Journal of Biological Chemistry . 272 . 32 . 20299–305 . Aug 1997 . 9242711 . 10.1074/jbc.272.32.20299 . free .
2. West J, Tompkins CK, Balantac N, Nudelman E, Meengs B, White T, Bursten S, Coleman J, Kumar A, Singer JW, Leung DW . Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells . DNA and Cell Biology . 16 . 6 . 691–701 . Jun 1997 . 9212163 . 10.1089/dna.1997.16.691 .
3. Web site: Entrez Gene: AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta).