" /> CLDN1 wt Allele - CISMeF





Preferred Label : CLDN1 wt Allele;

NCIt synonyms : CLD1; Senescence-Associated Epithelial Membrane Protein 1 Gene; SEMP1; NISCH; Claudin 1 wt Allele; ILVASC; UNQ481/PRO944;

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.;

NCI Metathesaurus CUI : CL1920669;

GenBank Accession Number : AF101051;

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31/07/2025


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