DSG2 Antibody – Rabbit Polyclonal

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]

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; plasma membrane; integral to membrane; intercellular junction; lateral plasma membrane

Molecular Function: calcium ion binding

Biological Process: maternal process involved in pregnancy; apoptosis; homophilic cell adhesion; cell adhesion; response to progesterone stimulus; cell structure disassembly during apoptosis

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