Desmoglein 2 (DSG2) Antibody – Mouse Monoclonal

Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. This gene product is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This second family member is expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jul 2008]

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.

Protein type: Membrane protein, integral; Cell adhesion; Calcium-binding

Chromosomal Location of Human Ortholog: 18q12.1

Cellular Component: desmosome; cell surface; 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

Disease: Cardiomyopathy, Dilated, 1bb; Arrhythmogenic Right Ventricular Dysplasia, Familial, 10