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PKP2 gene

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

PKP2 gene

The PKP2 gene provides instructions for making plakophilin 2, a protein essential for maintaining the structural integrity of heart muscle cells.

Overview

The PKP2 gene provides instructions for making a protein called plakophilin 2. This protein is found primarily in cells of the myocardium, the muscular wall of the heart. Within these cells, plakophilin 2 is a component of structures called desmosomes.

Normal Function

Desmosomes form junctions that attach heart muscle cells to one another. These structures provide strength to the myocardium and are involved in signaling between neighboring cells.

Health Conditions Related to Genetic Changes

Arrhythmogenic right ventricular cardiomyopathy

More than 230 mutations in the PKP2 gene have been identified in people with arrhythmogenic right ventricular cardiomyopathy (ARVC). This condition most commonly affects the myocardium surrounding the right ventricle, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.

  • Mutation impact: Some mutations lead to an abnormally short version of plakophilin 2, while others alter the protein's structure by adding, deleting, or changing amino acids.
  • Disease mechanism: Altered protein impairs the formation and function of desmosomes. Without normal desmosomes, heart muscle cells detach and die, especially under stress like vigorous exercise.
  • Progression: Damaged myocardium is replaced by fat and scar tissue. This buildup stretches the walls of the right ventricle, preventing effective pumping and disrupting the electrical signals that control the heartbeat.

Other Names for This Gene

  • ARVD9
  • MGC177501
  • plakophilin-2

Frequently Asked Questions

Management includes lifestyle modification (exercise restriction), pharmacologic therapy such as beta‑blockers or anti‑arrhythmic drugs, and in many cases an implantable cardioverter‑defibrillator (ICD) to prevent sudden cardiac death. Regular follow‑up with cardiac imaging and rhythm monitoring is essential to adjust therapy and detect disease progression.
First‑degree relatives should undergo genetic counseling and, if indicated, genetic testing. Those who test positive should receive baseline cardiac evaluation (ECG, echocardiogram, MRI) and ongoing surveillance. Even carriers of a single mutation may benefit from lifestyle guidance and periodic monitoring to catch early signs of ARVC.
targeted next‑generation sequencing panel that includes PKP2 is the standard test. Whole‑exome sequencing can also detect rare or novel variants. The test reports pathogenic, likely pathogenic, or variant of uncertain significance. A pathogenic or likely pathogenic result confirms the diagnosis; however, a variant of uncertain significance may require functional studies or family segregation analysis to interpret.
Early warning signs include unexplained palpitations, fainting spells, or a feeling of a racing heartbeat, especially after exercise or during periods of stress. Some people also notice shortness of breath or chest discomfort that improves with rest. If you experience any of these symptoms, seek evaluation by a cardiologist who can order an ECG, Holter monitor, or cardiac MRI to assess for arrhythmogenic right ventricular cardiomyopathy (ARVC).
Yes. In individuals with PKP2 mutations, intense or prolonged exercise can increase mechanical stress on the right ventricle, accelerating cell detachment and scar formation. Most clinicians recommend limiting high‑impact sports, especially competitive athletics, and may advise a gradual return to moderate activity under medical supervision.
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.