NCIt definition : Human CLDN1 wild-type allele is located in the vicinity of 3q28 and is approximately
17 kb in length. This allele, which encodes claudin-1 protein, plays a role in the
permeability of epithelial tight junctions. Loss of function mutations in the gene
are associated with neonatal ichthyosis-sclerosing cholangitis syndrome (NISCH; ILVASC).
Overexpression of the gene is associated with non-junctional (nj) expression, liver
fibrosis and various neoplastic diseases, including hepatocellular carcinoma.;