The AGPAT2 gene provides instructions for making an enzyme that is found in many of the body's cells and tissues. It plays a critical role in the growth and development of adipocytes, which are cells that store fats for energy. Adipocytes are the major component of the body's fatty (adipose) tissue.
The AGPAT2 enzyme is part of a chemical pathway in many cells that produces two important types of fats (lipids): glycerophospholipids and triacylglycerols. Glycerophospholipids are the major component of cell membranes and are involved in chemical signaling within cells. Triacylglycerols (also known as triglycerides) are fat molecules that are stored in adipocytes for later conversion to energy.
The AGPAT2 enzyme is responsible for a particular chemical reaction in the production of these two types of lipids. Specifically, the enzyme helps convert a molecule called lysophosphatidic acid (LPA) to another molecule, phosphatidic acid (PA). Additional reactions convert phosphatidic acid to glycerophospholipids and triacylglycerols.
Health Conditions Related to Genetic Changes
Congenital generalized lipodystrophy
At least 26 mutations in the AGPAT2 gene have been identified in people with congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 1. This rare condition is characterized by an almost total absence of adipose tissue and a very muscular appearance. A shortage of adipose tissue leads to multiple health problems, including high levels of triglycerides circulating in the bloodstream (hypertriglyceridemia) and diabetes mellitus.
The AGPAT2 gene mutations that cause congenital generalized lipodystrophy type 1 greatly reduce or eliminate the activity of the AGPAT2 enzyme. Studies suggest that a loss of this enzyme's activity reduces the production and storage of triacylglycerols in adipocytes, which prevents these cells from storing fats. A lack of enzyme activity may also reduce the levels of glycerophospholipids in adipocytes, which changes the structure of the cell membrane and disrupts normal signaling within these cells. All of these abnormalities prevent the body from storing fats normally in adipose tissue. The resulting lack of body fat underlies the varied signs and symptoms of congenital generalized lipodystrophy type 1.More About This Health Condition
Other Names for This Gene
- 1-acyl-sn-glycerol-3-phosphate acyltransferase beta
- 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
- 1-AGP acyltransferase 2
- lysophosphatidic acid acyltransferase-beta
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- 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. Nat Genet. 2002 May;31(1):21-3. doi: 10.1038/ng880. Epub 2002 Apr 22. Citation on PubMed
- Agarwal AK. Lysophospholipid acyltransferases: 1-acylglycerol-3-phosphate O-acyltransferases. From discovery to disease. Curr Opin Lipidol. 2012 Aug;23(4):290-302. doi: 10.1097/MOL.0b013e328354fcf4. Citation on PubMed
- Gale SE, Frolov A, Han X, Bickel PE, Cao L, Bowcock A, Schaffer JE, Ory DS. A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation. J Biol Chem. 2006 Apr 21;281(16):11082-9. doi: 10.1074/jbc.M509612200. Epub 2006 Feb 22. Citation on PubMed
- Magre J, Delepine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, Kim CA, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M. Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes. 2003 Jun;52(6):1573-8. doi: 10.2337/diabetes.52.6.1573. Citation on PubMed
- Miranda DM, Wajchenberg BL, Calsolari MR, Aguiar MJ, Silva JM, Ribeiro MG, Fonseca C, Amaral D, Boson WL, Resende BA, De Marco L. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. Clin Endocrinol (Oxf). 2009 Oct;71(4):512-7. doi: 10.1111/j.1365-2265.2009.03532.x. Epub 2009 Feb 18. Citation on PubMed
- Patni N, Garg A. Congenital generalized lipodystrophies--new insights into metabolic dysfunction. Nat Rev Endocrinol. 2015 Sep;11(9):522-34. doi: 10.1038/nrendo.2015.123. Epub 2015 Aug 4. Citation on PubMed