Junction plakoglobin, also known as gamma-catenin or JUP, is a protein that in humans is encoded by the JUP gene.[1]
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This gene encodes a major cytoplasmic protein that is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family, since it contains a distinct repeating amino acid motif called the armadillo repeat.[1]
Plakoglobin (gamma-catenin) was originally identified as a component of desmosomes, where it can bind to the cadherin family member desmoglein I. Plakoglobin also associates with classical cadherins such as E-cadherin; in that context, it was called gamma-catenin. Plakoglobin is O-glycosylated near its N-terminal destruction box.
Mutation of the gene encoding plakoglobin has been implicated as one of the causes of the cardiomyopathy known as arrhythmogenic right ventricular dysplasia (ARVD).[2] The form of ARVD in which a mutated form of plakoglobin is present was first identified in a small cluster of families on the Greek island of Naxos. This form of the disorder is autosomal recessive. The phenotype of the Naxos variant of ARVD is unique in that it involves the hair and skin as well as the right ventricle. Affected individuals have wooly, kinky hair; there is also palmar and plantar erythema at birth that progresses to keratosis as the palms and soles of the feet are used in crawling and walking. These findings co-segregate 100% with the development of ARVD by early adolescence.
It is also implicated in Pemphigus vulgaris along with genes encoding for Desmoglein 1 and 3.
Plakoglobin has been shown to interact with Beta-catenin,[3][4] MUC1,[5] CDH1,[6][3][7][8][9] CDH2,[10][11] CDH3,[12] Catenin (cadherin-associated protein), alpha 1,[13][11][14] VE-cadherin,[15][16] Desmoglein 2,[17][18][19] Desmoplakin,[20][21] APC,[7][22] PTPRK[23] and PKP2.[24]
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