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Genetics Home Reference: your guide to understanding genetic conditions
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AGPAT2

Reviewed August 2008

What is the official name of the AGPAT2 gene?

The official name of this gene is “1-acylglycerol-3-phosphate O-acyltransferase 2.”

AGPAT2 is the gene's official symbol. The AGPAT2 gene is also known by other names, listed below.

What is the normal function of the AGPAT2 gene?

The AGPAT2 gene provides instructions for making an enzyme that plays a critical role in the growth and development of adipocytes, which are the body's fat-storing cells.

The AGPAT2 enzyme is part of a chemical pathway that produces two important types of fats (lipids): glycerophospholipids and triacylglycerols. Glycerophospholipids are the major component of cell membranes throughout the body; they are also involved in chemical signaling within cells. Triacylglycerols (also known as triglycerides) are molecules in adipocytes that store fats 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.

How are changes in the AGPAT2 gene related to health conditions?

Berardinelli-Seip congenital lipodystrophy - caused by mutations in the AGPAT2 gene

At least 26 mutations in the AGPAT2 gene have been identified in people with Berardinelli-Seip congenital lipodystrophy type 1. These mutations alter the structure and function of the AGPAT2 enzyme.

Studies have shown that a defective AGPAT2 enzyme interferes with the normal development and function of adipocytes, which prevents the body from using and storing fats properly. Researchers propose that the abnormal AGPAT2 enzyme may reduce the production and storage of triacylglycerols in adipocytes, which would make these cells unable to store fats. The defective enzyme may also reduce the levels of glycerophospholipids in adipocytes, which would change the structure of the cell membrane and disrupt normal signaling within these cells. A lack of functional adipocytes leads to an almost total absence of body fat, which underlies most of the features of Berardinelli-Seip congenital lipodystrophy.

Where is the AGPAT2 gene located?

Cytogenetic Location: 9q34.3

Molecular Location on chromosome 9: base pairs 136,673,142 to 136,687,458

The AGPAT2 gene is located on the long (q) arm of chromosome 9 at position 34.3.

The AGPAT2 gene is located on the long (q) arm of chromosome 9 at position 34.3.

More precisely, the AGPAT2 gene is located from base pair 136,673,142 to base pair 136,687,458 on chromosome 9.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about AGPAT2?

You and your healthcare professional may find the following resources about AGPAT2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the AGPAT2 gene or gene products?

  • 1-acyl-sn-glycerol-3-phosphate acyltransferase beta
  • 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
  • 1-AGP acyltransferase 2
  • 1-AGPAT2
  • BSCL1
  • LPAAB
  • LPAAT-beta
  • lysophosphatidic acid acyltransferase-beta
  • PLCB_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding AGPAT2?

adipocytes ; adipose tissue ; cell ; cell membrane ; congenital ; differentiation ; enzyme ; gene ; lipodystrophy ; molecule ; phosphate ; tissue ; triglycerides

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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. Epub 2002 Apr 22. (http://www.ncbi.nlm.nih.gov/pubmed/11967537?dopt=Abstract)
  • Agarwal AK, Barnes RI, Garg A. Genetic basis of congenital generalized lipodystrophy. Int J Obes Relat Metab Disord. 2004 Feb;28(2):336-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14557833?dopt=Abstract)
  • Agarwal AK, Garg A. Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. Trends Endocrinol Metab. 2003 Jul;14(5):214-21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12826327?dopt=Abstract)
  • Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O'Rahilly S, Zaidi Z, Gurakan F, Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, Patel SB, Al-Gazali L, Garg A. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab. 2003 Oct;88(10):4840-7. (http://www.ncbi.nlm.nih.gov/pubmed/14557463?dopt=Abstract)
  • 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. J Clin Endocrinol Metab. 2004 Jun;89(6):2916-22. (http://www.ncbi.nlm.nih.gov/pubmed/15181077?dopt=Abstract)
  • 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. Epub 2006 Feb 22. (http://www.ncbi.nlm.nih.gov/pubmed/16495223?dopt=Abstract)
  • Magré J, Delépine 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. (http://www.ncbi.nlm.nih.gov/pubmed/12765973?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10555)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2008
Published: July 21, 2014