| GENE NAME | COL17A1 |
| CHROMOSOME | 10 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000065618 |
| UNIPROT ACCESSION NUMBER | None |
| GO MOLECULAR FUNCTION | ['extracellular matrix structural constituent conferring tensile strength', 'protein binding', 'extracellular matrix structural constituent'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04974; R-HSA-1280218; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1474290; R-HSA-1500931; R-HSA-1650814; R-HSA-168256; R-HSA-198933; R-HSA-2022090; R-HSA-446107; R-HSA-446728; R-HSA-8948216 |
| 5 combinations linked to COL17A1 | OLI126; OLI1733; OLI1642; OLI577; OLI443 |
| 6 variants linked to COL17A1 | COL17A1:c.2669T>G, p.Leu855Ter; COL17A1:c.3781C>T, p.Arg1226Ter; COL17A1:c.202delA, p.Thr68LeufsTer106; COL17A1:c.3277+3G>C, ; COL17A1:c.4156+2dup, ; COL17A1:c.1141+1G>A, |
| 4 diseases linked to COL17A1 | Epidermolysis bullosa simplex; Junctional epidermolysis bullosa; Hypodontia; Amelogenesis imperfecta |