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Genetics Home Reference: your guide to understanding genetic conditions
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PNPLA2

Reviewed November 2008

What is the official name of the PNPLA2 gene?

The official name of this gene is “patatin-like phospholipase domain containing 2.”

PNPLA2 is the gene's official symbol. The PNPLA2 gene is also known by other names, listed below.

What is the normal function of the PNPLA2 gene?

The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides, which are the main source of stored energy in cells. Triglycerides are the major component of cell structures called lipid droplets (also called adiposomes). The ATGL enzyme is found on the surface of lipid droplets. When activated, the ATGL enzyme breaks down triglycerides to provide energy for the body.

How are changes in the PNPLA2 gene related to health conditions?

neutral lipid storage disease with myopathy - caused by mutations in the PNPLA2 gene

At least five mutations in the PNPLA2 gene have been found to cause neutral lipid storage disease with myopathy. Some of these mutations cause the enzyme to function abnormally. Other mutations prevent the enzyme from ever reaching lipid droplets, so it is unable to interact with triglycerides. Any disruption in the breakdown of triglycerides leads to the accumulation of these fats in muscle and other tissues throughout the body, resulting in the signs and symptoms of neutral lipid storage disease with myopathy.

Where is the PNPLA2 gene located?

Cytogenetic Location: 11p15.5

Molecular Location on chromosome 11: base pairs 818,900 to 825,572

The PNPLA2 gene is located on the short (p) arm of chromosome 11 at position 15.5.

The PNPLA2 gene is located on the short (p) arm of chromosome 11 at position 15.5.

More precisely, the PNPLA2 gene is located from base pair 818,900 to base pair 825,572 on chromosome 11.

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 PNPLA2?

You and your healthcare professional may find the following resources about PNPLA2 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 PNPLA2 gene or gene products?

  • adipose triglyceride lipase
  • ATGL
  • desnutrin
  • FP17548
  • PLPL2_HUMAN
  • transport-secretion protein 2.2
  • triglyceride hydrolase
  • TTS2
  • TTS-2.2

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 PNPLA2?

breakdown ; cell ; domain ; enzyme ; gene ; hydrolase ; lipase ; lipid ; lipolysis ; protein ; secretion ; 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

  • Arner P, Langin D. The role of neutral lipases in human adipose tissue lipolysis. Curr Opin Lipidol. 2007 Jun;18(3):246-50. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17495596?dopt=Abstract)
  • Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007 Jan;39(1):28-30. Epub 2006 Dec 24. (http://www.ncbi.nlm.nih.gov/pubmed/17187067?dopt=Abstract)
  • Kobayashi K, Inoguchi T, Maeda Y, Nakashima N, Kuwano A, Eto E, Ueno N, Sasaki S, Sawada F, Fujii M, Matoba Y, Sumiyoshi S, Kawate H, Takayanagi R. The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. J Clin Endocrinol Metab. 2008 Jul;93(7):2877-84. doi: 10.1210/jc.2007-2247. Epub 2008 Apr 29. (http://www.ncbi.nlm.nih.gov/pubmed/18445677?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/57104)
  • OMIM: PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2 (http://omim.org/entry/609059)
  • Schweiger M, Schoiswohl G, Lass A, Radner FP, Haemmerle G, Malli R, Graier W, Cornaciu I, Oberer M, Salvayre R, Fischer J, Zechner R, Zimmermann R. The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding. J Biol Chem. 2008 Jun 20;283(25):17211-20. doi: 10.1074/jbc.M710566200. Epub 2008 Apr 29. (http://www.ncbi.nlm.nih.gov/pubmed/18445597?dopt=Abstract)
  • Smirnova E, Goldberg EB, Makarova KS, Lin L, Brown WJ, Jackson CL. ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells. EMBO Rep. 2006 Jan;7(1):106-13. (http://www.ncbi.nlm.nih.gov/pubmed/16239926?dopt=Abstract)

 

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: November 2008
Published: August 25, 2014