Aliases:This biomarker is also known as:
- Desmosomal glycoprotein II,
- Cadherin family member 2,
- Desmosomal glycoprotein III,
DSC2, a calcium-dependent glycoprotein, is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family member genes are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, also known as arrhythmogenic right ventricular cardiomyopathy 11, an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. Alternative splicing results in two transcript variants encoding distinct isoforms; DSC2 is encoded by Isoform 2A.
|QA State:||Under Review|
There are no datasets associated with this biomarker.