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desmocollins


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Desmosomal glycoproteins (DSCs, ~900 aa) of the cadherin superfamily of calcium-dependent cell adhesion molecules. In the human three types of desmocollin have been identified, some with alternatively-spliced variants. DSC2 mutations are a cause of arrhythmogenic right ventricular dysplasia-11 (ARVD-11) and normal levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function. See desmogleins.

Subjects: Medicine and Health.


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