The gene cldn7 encodes a claudin family protein, which is a component of tight junctions and functions as a membrane-bound barrier protein. In embryos, its expression is detected in the epidermis and t...[+]

The gene cldn7 encodes a claudin family protein, which is a component of tight junctions and functions as a membrane-bound barrier protein. In embryos, its expression is detected in the epidermis and the otic vesicle. The protein localizes to the plasma membrane where it contributes to the formation of paracellular barriers that regulate ion and solute permeability. [-]

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