| Entrez Gene ID | 9076 |
|---|---|
| Official Gene Symbol | CLDN1 (GeneCards) |
| Full name | claudin 1 |
| Location | 3q28 |
| Other ids | Vega : OTTHUMG00000156214 MIM : 603718 HGNC : HGNC:2032 Ensembl : ENSG00000163347 |
| Other names | CLD1, SEMP1, ILVASC |
| 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, Jul 2008] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1224 | 9076 | CLDN1 | 3 | 190030680 | 190030680 | Autism Spectrum Disorders | NextSeq500 v2 |
| 4945 | 9076 | CLDN1 | 3 | 190034629 | 190034629 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 4984 | 9076 | CLDN1 | 3 | 190040477 | 190040477 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 5683 | 9076 | CLDN1 | 3 | 190092246 | 190092246 | Cockayne syndrome | NextSeq500 v2 HiSeq X Ten |
| 29750 | 9076 | CLDN1 | 3 | 190030680 | 190030680 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten NextSeq500 |