CLDN1 wt Allele

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;

Details

Origin ID

C201775;

UMLS CUI

C5890869;

OMIM relation
- Claudin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q28 [NCIt concept]
gene_is_element_in_pathway
- Cell Adhesion Molecule Signaling Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- Nectin Adhesion Pathway [NCIt concept]
- Pathogenic Escherichia coli Infection Pathway [NCIt concept]
- Tight Junction Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Ligand Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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