JUP : junction plakoglobin
Description
The JUP (junction plakoglobin) is a protein-coding gene located on chromosome 17.
The JUP gene provides instructions for making plakoglobin, a protein primarily found in heart and skin cells. Plakoglobin is a component of adherens junctions and desmosomes, structures that help hold cells together, providing tissue strength and stability. Desmosomes might also be involved in cell signaling, differentiation, and apoptosis. Plakoglobin participates in the Wnt pathway, regulating gene activity and cell interactions, crucial for development, including heart, skin, and hair development.
Plakoglobin, also known as junction plakoglobin, is a crucial protein found in cell junctions, acting as a bridge between cell adhesion molecules and the cytoskeleton. Its presence in both desmosomes and intermediate junctions highlights its central role in maintaining cell structure and function. Plakoglobin interacts with various proteins, including VE-PTP, stimulating VE-cadherin activity in endothelial cells. It can also replace beta-catenin in E-cadherin/catenin complexes, linking cadherins to the actin cytoskeleton, thereby influencing cell shape and organization.
JUP is also known as CTNNG, DP3, DPIII, PDGB, PG, PKGB.
Associated Diseases
- Naxos disease
- Arrhythmogenic right ventricular dysplasia 12
- Lethal acantholytic erosive disorder
- Arrhythmogenic right ventricular cardiomyopathy
- Keratoderma with woolly hair
