Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.
Expressed in epithelia, myocardium and lymph nodes.
Involvement in disease
Defects in DSC2 are the cause of familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476]; also known as arrhythmogenic right ventricular cardiomyopathy 11 (ARVC11). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.
Contains 5 cadherin domains.
Calcium may be bound by the cadherin-like repeats.