PKP2

Description

The PKP2 gene provides instructions for making a protein called plakophilin-2. This protein is a crucial component of desmosomes, specialized cell junctions that hold cells together in tissues. Desmosomes are particularly important in the heart, where they help maintain the structural integrity of the heart muscle. Mutations in the PKP2 gene can disrupt desmosome function, leading to a range of heart conditions.

Associated Diseases

• Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC): A life-threatening heart condition characterized by abnormal heart rhythms and a weakening of the right ventricle.
• Sudden Cardiac Death (SCD): A sudden, unexpected death from a cardiac arrest, often caused by an underlying heart condition.
• Dilated Cardiomyopathy (DCM): A condition where the heart chambers enlarge and weaken, making it difficult to pump blood effectively.
• Cardiac Conduction Defects: Problems with the electrical pathways that control the heart‘s rhythm.
• Ventricular Tachycardia (VT): A rapid heartbeat originating from the ventricles.
• Atrial Fibrillation (AFib): An irregular and often rapid heart rhythm.

Did you know?

Mutations in the PKP2 gene are more common in individuals of Ashkenazi Jewish descent.