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PRKAG2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PRKAG2 gene

The PRKAG2 gene provides instructions for making a subunit of an enzyme that regulates energy use within cells, particularly in the heart.

Normal Function

The PRKAG2 gene provides instructions for making the gamma-2 subunit of an enzyme called AMP-activated protein kinase (AMPK). This enzyme helps cells sense and respond to energy demands and is active in many tissues, including heart (cardiac) muscle and skeletal muscles.

AMP-activated protein kinase regulates chemical pathways involving adenosine triphosphate (ATP), the cell's main energy source. During times of cellular stress, such as low oxygen or exercise, ATP is broken down rapidly. If ATP levels become too low, the enzyme restores energy balance by limiting reactions that require ATP and stimulating pathways that generate it. The enzyme may also regulate ion channels in the heart, which are critical for maintaining a normal heart rhythm.

Health Conditions Related to Genetic Changes

Wolff-Parkinson-White syndrome

At least seven mutations in the PRKAG2 gene have been identified in people with Wolff-Parkinson-White syndrome. Some individuals also exhibit features of hypertrophic cardiomyopathy, a condition where the heart muscle enlarges and weakens. Research suggests these mutations alter the activity of AMP-activated protein kinase, disrupting the enzyme's ability to respond to energy demands. This altered activity can lead to an abnormal buildup of glycogen within cardiac muscle cells, causing them to enlarge, and may also contribute to electrical signaling problems in the heart.

Other disorders

  • Lethal congenital glycogen storage disease of the heart: A specific mutation (Arg531Gln) causes an extremely severe form of heart disease characterized by an enlarged heart (cardiomegaly) and abnormal electrical signaling, leading to respiratory distress and heart failure early in life.
  • Cardiac and skeletal muscle disorders: Other mutations are associated with disorders affecting both heart and skeletal muscles. Individuals with these changes typically experience muscle pain and stiffness following exercise, in addition to hypertrophic cardiomyopathy and abnormal heart electrical signaling.

Other Names for This Gene

  • AAKG
  • AAKG2
  • AAKG2_HUMAN
  • AMP-activated protein kinase gamma2 subunit
  • AMPK gamma2
  • CMH6
  • H91620p
  • protein kinase, AMP-activated, gamma 2 non-catalytic subunit
  • WPWS

Frequently Asked Questions

Currently, no drug specifically targets glycogen accumulation in PRKAG2 hearts. Treatment focuses on controlling arrhythmias with beta‑blockers or anti‑arrhythmic drugs and, if necessary, catheter ablation of accessory pathways. In severe cases, a heart transplant may be considered once the disease progresses to end‑stage heart failure.===
Parents should watch for episodes of fainting, rapid heartbeat, or shortness of breath, especially during physical activity. A sudden drop in blood pressure or a feeling of dizziness can also signal abnormal conduction. If any of these occur, prompt evaluation with an ECG and echocardiogram is advised.
The diagnosis starts with a standard ECG that shows a short PR interval and a delta wave. If WPW is present, a genetic test—usually a targeted next‑generation sequencing panel for cardiac genes—will look for pathogenic variants in PRKAG2. A positive result is confirmed by Sanger sequencing of the specific exon.
Regular, moderate exercise (as tolerated) improves cardiac efficiency, but high‑intensity workouts should be avoided. Maintaining a heart‑healthy diet low in saturated fats and sodium, staying hydrated, and avoiding stimulants such as caffeine or nicotine can help keep the heart rhythm stable. Routine follow‑up with a cardiologist for ECGs and echocardiograms every 6–12 months is recommended.
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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