disease:Defects in DSC2 are the cause of familial arrhythmogenic right ventricular dysplasia 11 (ARVD11) [MIM:610476]. Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited myocardial disorder associated with ventricular arrhythmias, heart failure, and sudden death. The main pathologic characteristic of ARVD is loss of myocardium, predominately in the right ventricle, and its replacement with adipose and fibrous tissue. Familial ARVD is believed to account for at least 30%-50% of all cases, although penetrance in some families is estimated to be <30%.,domain:Calcium may be bound by the cadherin-like repeats .,function: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.,similarity:Contains 5 cadherin domains.,tissue specificity:Expressed in epithelia, myocardium and lymph nodes.,
Cell membrane ; Single-pass type I membrane protein . Cell junction, desmosome .
Expressed in epithelia, myocardium and lymph nodes.