Name = junction plakoglobin
HGNCid = 6207
Symbol = JUP
AltSymbols = CTNNG
EntrezGene = 3728
OMIM = 173325
RefSeq = NM_002230
UniProt = P14923
Chromosome = 17
Arm = q
Band = 21
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). 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 Nexos, near the Turkish coast. This form of the disorder is autosomal recessive. The phenotype of the Nexos 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.
1: Cowin P, Kapprell HP, Franke WW, Tamkun J, Hynes RO. Plakoglobin: a protein common to different kinds of intercellular adhering junctions.Cell. 1986 Sep 26;46(7):1063-73.
2: Franke WW, Goldschmidt MD, Zimbelmann R, Mueller HM, Schiller DL, Cowin P Molecular cloning and amino acid sequence of human plakoglobin, the common junctional plaque protein. Proc Natl Acad Sci U S A. 1989 Jun;86(11):4027-31.
3: Mathur M, Goodwin L, Cowin P. Interactions of the cytoplasmic domain of the desmosomal cadherin Dsg1 withplakoglobin. J Biol Chem. 1994 May 13;269(19):14075-80.
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