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desmoplakins

 
DP1 and DP2. Locus: 6p24

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.

Pathology

-  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#


Desmoplakins and desmosome - (Rockfeller University)
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