DSC2

The DSC2 gene provides instructions for making a protein called desmocollin-2. This protein is found in many tissues, although it appears to be particularly important in the heart muscle and skin.

Associated Diseases

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Did you Know

• Mutations in the DSC2 gene are linked to ARVD11, a condition affecting the right ventricle of the heart.
• ARVD11 can lead to abnormal heart rhythms (arrhythmias) and structural changes in the heart muscle.
• It is characterized by thick, calloused skin on the palms and soles (palmoplantar keratoderma), coarse, dry, tightly curled hair, and potentially life-threatening heart issues