Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Defects in DSG2 are the cause of familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10); also known as arrhythmogenic right ventricular cardiomyopathy 10 (ARVC10). 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. Genetic variations in DSG2 are the cause of susceptibility to cardiomyopathy dilated type 1BB (CMD1BB). A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Calcium-binding protein; Cell adhesion
Chromosomal Location of Human Ortholog: 18q12.1
Cellular Component: desmosome; apical plasma membrane; integral to membrane; plasma membrane; intercellular junction; lateral plasma membrane
Molecular Function: calcium ion binding
Biological Process: maternal process involved in pregnancy; apoptosis; homophilic cell adhesion; response to progesterone stimulus; cell adhesion; cell structure disassembly during apoptosis
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.