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JUP

MIM.173325 17q21

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Plakoglonin (JUP) in desmosomes
gamma-catenin, PKGB, desmoplakin-3, plakoglobin, catenin-gamma, junction plakoglobin

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