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DSG2 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: Calcium-binding; Cell adhesion; Membrane protein, integral
Chromosomal Location of Human Ortholog: 18q12.1
Cellular Component: cell surface; cornified envelope; desmosome; intercellular junction; plasma membrane
Molecular Function: cell adhesion molecule binding
Biological Process: cell adhesion; homophilic cell adhesion; keratinization
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10; Cardiomyopathy, Dilated, 1bb
Reference #:  Q14126 (UniProtKB)
Alt. Names/Synonyms: ARVC10; ARVD10; Cadherin family member 5; CDHF5; CMD1BB; desmoglein 2; Desmoglein-2; DSG2; HDGC; MGC117034; MGC117036; MGC117037
Gene Symbols: DSG2
Molecular weight: 122,294 Da
Basal Isoelectric point: 5.13  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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