Disease-gene associations mined from literature

Literature associating JUP and arrhythmogenic right ventricular dysplasia 10

JUP [ENSP00000377508]

Junction plakoglobin; 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. Acts as a substrate for VE-PTP and is required by it to stimulate VE- cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity).

Synonyms:  JUP,  C9J826,  C9JK18,  C9JKY1,  C9JPI2 ...

Linkouts:  STRING  Pharos  UniProt