JUP
MIM.173325 17q21
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)
- arrhythmogenic right ventricular cardiomyopathy (ARVC) (#12373648#, #17924338#)
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder associated with arrhythmias and sudden death.
References
Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2007 Nov;81(5):964-73. PMID: #17924338#