| GENE NAME | COL6A5 |
| CHROMOSOME | 3 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000172752 |
| UNIPROT ACCESSION NUMBER | E9PAL5 |
| GO MOLECULAR FUNCTION | ['extracellular matrix structural constituent conferring tensile strength', 'protein binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa04151; hsa04510; hsa04512; hsa04974; hsa05165; R-HSA-1266738; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1474290; R-HSA-162582; R-HSA-1650814; R-HSA-186797; R-HSA-2022090; R-HSA-216083; R-HSA-3000178; R-HSA-375165; R-HSA-419037; R-HSA-422475; R-HSA-8948216; R-HSA-9006934; R-HSA-9675108 |
| 1 combination linked to COL6A5 | OLI1688 |
| 1 variant linked to COL6A5 | COL6A5:c.5392G>A, p.Gly1798Arg |
| 1 disease linked to COL6A5 | Non-Syndromic genetic keratoconus |