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plakoglobin

MIM.173325 17q21

gamma-catenin, PKGB, desmoplakin-3

 

Plakoglobin is a major cytoplasmic protein that occurs in a soluble and a membrane-associated form and is the only known constituent common to the submembranous plaques of both kinds of adhering junctions, the desmosomes and the intermediate junctions. It is a member of desmoplakins (MIM.125647) and is referred to as desmoplakin-3 (DP III).

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).

Function

-  Plakoglobin associates with the cytoplasmic region of desmoglein-1 (MIM.125670), one of the transmembrane desmosomal proteins.
-  Plakoglobin is a component of the cadherin-catenin complex, which is predominantly localized where actin filaments anchor in adherens junction of epithelial cells.

Pathology

-  germ-line mutations in Naxos disease (MIM.601214) combining palmoplantar keratoderma, ectodermal disorders and arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC MIM.107970)

-  germ-line mutations in arrhythmogenic right ventricular cardiomyopathy (#12373648#)

-  MIM.173325

Plakoglobin and desmosome
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