DSC3
Desmocollin-3 is a protein that in humans is encoded by the DSC3 gene.
Gene
The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms.
Function
Desmocollin-3 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 loss of these components leads to a lack of adhesion and a gain of cellular mobility.
Clinical significance
Breast cancer
Through the process of epigenetic silencing, the expression of the desmocollin 3 protein is down regulated in many breast cancers.
Hereditary hypotrichosis