DSC1

DSC1 or Desmocollin 1 is a protein that in humans is encoded by the DSC1 gene. It 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.

Structure

Desmocollin 1 is a transmembrane glycoprotein with a molecular weight of approximately 100 kDa. It is composed of a large extracellular domain, a single transmembrane domain, and a smaller intracellular domain. The extracellular domain is responsible for mediating cell-cell adhesion, while the intracellular domain interacts with other desmosomal proteins to link the desmosome to the intermediate filament cytoskeleton.

Function

The primary function of DSC1 is to mediate cell-cell adhesion in desmosomes. This is crucial for maintaining the structural integrity of tissues, particularly those that experience mechanical stress, such as the skin and heart. In addition to its role in adhesion, DSC1 also plays a role in signal transduction pathways that regulate cell proliferation, differentiation, and apoptosis.

Clinical significance

Mutations in the DSC1 gene have been associated with several skin disorders, including palmoplantar keratoderma, striate palmoplantar keratoderma, and hypotrichosis. These disorders are characterized by thickening of the skin on the palms and soles, and hair loss, respectively. In addition, altered expression of DSC1 has been observed in several types of cancer, including breast cancer and squamous cell carcinoma.

See also

• Desmocollin
• Desmosome
• Cadherin

References

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