DSC2

DSC2 is a gene that encodes the protein Desmocollin-2, a component of desmosomes. Desmosomes are cell structures that help connect adjacent cells. The DSC2 gene is located on the short (p) arm of chromosome 18 at position 11.1.

Function

The DSC2 gene provides instructions for making a protein called desmocollin-2. This protein is found in desmosomes, which are complexes of proteins that link adjacent cells together, particularly in the skin and heart. Desmocollin-2 helps cells stick to one another and provides strength and stability to tissues and organs.

Clinical significance

Mutations in the DSC2 gene have been associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), a form of heart disease that often leads to life-threatening abnormal heart rhythms (arrhythmias).

References

External links

DSC2 at NCBI
DSC2 at Genetics Home Reference

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