JUP

Junction plakoglobin ;
Catenin gamma ;
Desmoplakin III ;
Desmoplakin-3 ;

disease:Defects in JUP are the cause of familial arrhythmogenic right ventricular dysplasia type 12 (ARVD12) [MIM:611528]; also called arrhythmogenic right ventricular cardiomyopathy type 12 (ARVC12). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.,disease:Defects in JUP are the cause of Naxos disease (NXD) [MIM:601214]. NXD is an autosomal recessive disorder combining diffuse non-epidermolytic palmoplantar keratoderma with arrhythmogenic right ventricular dysplasia/cardiomyopathy and woolly hair.,function:Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques.,sequence caution:Translation N-terminally shortened.,similarity:Belongs to the beta-catenin family.,similarity:Contains 9 ARM repeats.,subcellular location:Cytoplasmic in a soluble and membrane-associated form.,subunit:Homodimer. Interacts with MUC1.,

protein complex assembly, cell adhesion, cell-cell adhesion, biological adhesion, macromolecular complex subunit organization, protein oligomerization, protein heterooligomerization, macromolecular complex assembly, protein complex biogenesis,

Cell junction, adherens junction . Cell junction, desmosome . Cytoplasm, cytoskeleton . Membrane ; Peripheral membrane protein . Cytoplasmic in a soluble and membrane-associated form.