Naxos Disease

  • Plakoglobin (gamma-catenin) interacts directly with the intracellular region of cadherins and also binds directly to desmoplakin and plakophilins. Plakophilins participate in the recruitment of proteins to the plasma membrane.
  • A mutation in the plakoglobin gene leads to Naxos Disease.
  • Naxos Disease is an arrythmogenic right ventricular cardiomyopathy (ARVC) and is characterized by wooly hair and palmoplantar keratoderma.
  • Fat cells also replace the cardiocytes.


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