Desmocollin 2 (DSC2) Antibody – Guinea Pig Polyclonal

This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

DSC2: 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. Defects in DSC2 are the cause of familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11); also known as arrhythmogenic right ventricular cardiomyopathy 11 (ARVC11). 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Cell adhesion

Chromosomal Location of Human Ortholog: 18q12.1

Cellular Component: desmosome; cell-cell adherens junction; plasma membrane; integral to membrane; cytoplasmic vesicle

Molecular Function: protein binding; calcium ion binding

Biological Process: cell adhesion; cellular response to starvation; homophilic cell adhesion

Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11