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PNPLA2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PNPLA2 gene

The PNPLA2 gene provides instructions for creating an enzyme that breaks down stored fats to provide energy for the body.

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.

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

Frequently Asked Questions

Patients often experience muscle weakness, especially in the shoulders and hips, exercise intolerance, and sometimes pain or swelling in the muscles. Fatty infiltration of the heart can also occur, leading to arrhythmias or heart failure. How is PNPLA2 deficiency diagnosed?::A clinician orders a lipid panel and muscle enzyme tests (e.g., creatine kinase). If abnormal, a muscle biopsy may show lipid droplets, and genetic testing confirms PNPLA2 mutations. Can lifestyle changes reduce fat accumulation in muscles?::Yes. A balanced diet low in saturated fats, regular aerobic exercise, and avoiding high‑fat meals can help limit triglyceride buildup. Some patients benefit from omega‑3 supplements, but these should be discussed with a healthcare provider. What therapies are available to manage muscle pain and weakness in this condition?::Physical therapy focusing on gentle strengthening and stretching can improve function. In severe cases, a cardiac evaluation is necessary, and medications such as beta‑blockers or antiarrhythmics may be prescribed if heart involvement is present.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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