Desmosomal proteins can be divided into 2 groups based on whether they fractionate with the urea-insoluble 'core' or the urea-soluble 'plaque' components. The main proteins of the plaque comprise the desmoplakins and plakoglobin (MIM.173325).
desmoplakin-1 and desmoplakin-2 are related proteins of molecular mass 250,000 and 215,000, respectively. They are splice variants of the same gene.
mutations in striate subtype of palmoplantar keratoderma
mutations in dilated left ventricular cardiomyopathy with palmoplantar epidermis and woolly hair (MIM.605676)
mutations in arrhythmogenic right ventricular dysplasia (ARVD8)(MIM.607450)
mutations in skin fragility-woolly hair syndrome (MIM.607655)
References
Leung CL, Green KJ, Liem RK. Plakins : a family of versatile cytolinker proteins. Trends Cell Biol. 2002 Jan ;12(1):37-45. PMID : #11854008#