CLDN1 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - CLD1 - Claudin 1 wt Allele - ILVASC - NISCH - SEMP1 - Senescence-Associated Epithelial Membrane Protein 1 Gene - UNQ481/PRO944