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]

  • Desmosome organization
  • Purkinje myocyte development
  • Cell adhesion
  • Homophilic cell adhesion via plasma membrane adhesion molecules
  • Keratinization
  • Arrhythmogenic right ventricular dysplasia, familial, 10
  • Cardiomyopathy, dilated, 1bb
  • Arrhythmogenic right ventricular cardiomyopathy
  • Familial isolated dilated cardiomyopathy
  • Rare cardiomyopathy
  • General Cardiomyopathy
  • RVC

Based on Ayass Bioscience, LLC Data Analysis

Gene Location

Pathogenic Prevalence

% 0.0510725229826353

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants