Aliases for DSC3 Gene
External Ids for DSC3 Gene
Previous HGNC Symbols for DSC3 Gene
Previous GeneCards Identifiers for DSC3 Gene
The protein encoded by this gene is a calcium-dependent glycoprotein that 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 members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
GeneCards Summary for DSC3 Gene
DSC3 (Desmocollin 3) is a Protein Coding gene. Diseases associated with DSC3 include hypotrichosis and recurrent skin vesicles and arrhythmogenic right ventricular dysplasia 11. Among its related pathways are Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include calcium ion binding and gamma-catenin binding. An important paralog of this gene is DSG2.
UniProtKB/Swiss-Prot for DSC3 Gene
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.