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PNPLA2 gene
URL of this page: https://medlineplus.gov/genetics/gene/pnpla2/

PNPLA2 gene

patatin like phospholipase domain containing 2

Normal Function

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.

Health Conditions Related to Genetic Changes

Neutral lipid storage disease with myopathy

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.

More About This Health Condition

Other Names for This Gene

  • adipose triglyceride lipase
  • ATGL
  • desnutrin
  • FP17548
  • patatin-like phospholipase domain containing 2
  • PLPL2_HUMAN
  • transport-secretion protein 2.2
  • triglyceride hydrolase
  • TTS-2.2
  • TTS2

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Arner P, Langin D. The role of neutral lipases in human adipose tissue lipolysis. Curr Opin Lipidol. 2007 Jun;18(3):246-50. doi: 10.1097/MOL.0b013e32811e16fb. Citation on PubMed
  • Fischer J, Lefevre C, Morava E, Mussini JM, Laforet 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. doi: 10.1038/ng1951. Epub 2006 Dec 24. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. doi: 10.1038/sj.embor.7400559. Citation on PubMed or Free article on PubMed Central

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