The gene tjp1 encodes a peripheral membrane protein that belongs to the membrane-associated guanylate kinase (MAGUK) family and is localized at tight junctions in epithelial cells of the skin, gut, and...[+]

The gene tjp1 encodes a peripheral membrane protein that belongs to the membrane-associated guanylate kinase (MAGUK) family and is localized at tight junctions in epithelial cells of the skin, gut, and pronephros. The tjp1 protein functions as a scaffolding protein for organizing transmembrane proteins like occludin and claudins into functional junctional complexes which are required for establishing cell polarity and forming a paracellular barrier that regulates ion and solute diffusion. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD