Aliases for DSC1 Gene
External Ids for DSC1 Gene
Previous GeneCards Identifiers for DSC1 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. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015]
GeneCards Summary for DSC1 Gene
DSC1 (Desmocollin 1) is a Protein Coding gene. Diseases associated with DSC1 include Subcorneal Pustular Dermatosis and Iga Pemphigus. Among its related pathways are Keratinization and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DSC2.
UniProtKB/Swiss-Prot Summary for DSC1 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. Linked to the keratinization of epithelial tissues.