Entrez gene ID | | 9076 |
Official gene symbol | | CLDN1 |
Full name | | claudin 1 |
Aliases | | ,CLD1,ILVASC,SEMP1, |
Gene summary | | Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq] |
Location | | Chromosome: 3 Locus: 3q28-q29 |
Gene position | | 190040235 - 190023490 Map Viewer |
Gene orientation | | minus |
Gene size | | 16746 bp |
Gene sequence |
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OMIM ID | | 603718 |
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