plakoglobin


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plakoglobin

A protein encoded by JUP on chromosome 17q21, which is the core molecule in the submembranous plaques of desmosomes and intermediate junctions, and forms complexes with cadherins. It is a member of the catenin protein family as it contains a so-called armadillo repeat.

Interactions
Beta-catenin, MUC1, CDH1, CDH2, CDH3, E-cadherin, desmoglein 2, desmoplakin.

Abnormal in 
JUP mutations are associated with arrhythmogenic right ventricular cardiomyopathy and Naxos syndrome.
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References in periodicals archive ?
Mutations at the inner dense plaque, particularly affecting the desmin-binding site of desmoplakin may result in ARVD/C with predominantly left ventricular involvement and clinical overlapping with dilated cardiomyopathy, while the mutations affecting the outer dense plaque of desmosome (desmoglein2, plakoglobin, plakophilin2 and the N-terminal of desmoplakin) result in ARVD/C with the ordinary described phenotype indicating that mutations in the same gene at different locations might lead to different phenotypes either ARVD/C or ALVC (50).
Plakoglobin: Earlier mutations in plakoglobin were reported in a variant of ARVC called Naxos disease, which is characterized by signature features of ARVC accompanied by diffuse non-epidermolytic palmoplantar keratoderma (NEPPK) and wooly hair (WH) (56), a recently identified novel autosomal dominant plakoglobin mutation without any cutaneous and hair abnormalities.
Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy.
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.