DSC3
DSC3 or Desmocollin 3 is a protein that in humans is encoded by the DSC3 gene. Desmocollin 3 is a member of the desmocollin subfamily of the cadherin superfamily. The desmocollins, along with the desmogleins, are cell-cell adhesion molecules that are major components of the desmosome. Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types.
Function[edit]
Desmocollin and desmoglein are the main components of desmosome, a cell-cell junction structure in the epithelial cells. They belong to the cadherin superfamily of proteins. Desmocollin 3, along with desmocollin 1 and 2, makes up the desmocollin subfamily. These proteins play a crucial role in the maintenance of cell integrity and tissue architecture, by mediating cell-cell adhesion.
Clinical significance[edit]
Mutations in the DSC3 gene have been associated with hereditary skin diseases, including familial pemphigus, pemphigus vulgaris, and pemphigus foliaceus. These are autoimmune diseases characterized by blistering and erosion of the skin and mucous membranes.
See also[edit]
References[edit]
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External links[edit]
- DSC3 at the US National Library of Medicine Medical Subject Headings (MeSH)
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