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[edit | edit source]
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[edit | edit source]
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).
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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