| GENE NAME | COL6A6 |
| CHROMOSOME | 3 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000206384 |
| UNIPROT ACCESSION NUMBER | A6NMZ7 |
| GO MOLECULAR FUNCTION | ['extracellular matrix structural constituent conferring tensile strength'] |
| 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 COL6A6 | OLI1690 |
| 1 variant linked to COL6A6 | COL6A6:c.5497T>C, p.Tyr1833His |
| 1 disease linked to COL6A6 | Non-Syndromic genetic keratoconus |