Gene DSC2

Also known as

ARVD11, CDHF2, desmocollin 2

Overview

DSC2 (Desmocollin 2) encodes a component of desmosomes, the cell-cell junctions that provide mechanical strength to tissues subjected to physical stress, particularly heart muscle and skin. Desmocollin-2 is the only desmocollin expressed in heart tissue and is essential for maintaining cardiac muscle integrity during contraction.

Mutations in DSC2 cause arrhythmogenic right ventricular cardiomyopathy (ARVC), a condition where heart muscle is progressively replaced by fatty and fibrous tissue, leading to ventricular arrhythmias and sudden cardiac death. DSC2 mutations can also cause skin abnormalities when combined with cardiac disease. ARVC is a leading cause of sudden death in young athletes.

Understanding your DSC2 genetic status is critical for individuals with unexplained ventricular arrhythmias, family history of sudden cardiac death, or ARVC. Identification of pathogenic variants enables appropriate activity restrictions (particularly endurance athletics), cardiac monitoring, and consideration of implantable defibrillators for prevention of sudden death.

NutraHacker Raw DNA Analysis Products that include this gene

• Whole Genome Sequencing Critical Genetics Report

Upload raw DNA data to get your very own analysis of gene DSC2 through your personalized DNA reports.