| GENE NAME | COL4A1 |
| CHROMOSOME | 13 |
| ENSEMBL ID | ENSG00000187498 |
| ENTREZ ID | 1282 |
| UNIPROT ACCESSION NUMBER | P02462 |
| GO MOLECULAR FUNCTION | extracellular matrix structural constituent; platelet-derived growth factor binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-422475; R-HSA-375165; R-HSA-9675108; hsa04512; hsa05165; R-HSA-1474290; R-HSA-3000157; hsa05222; R-HSA-1266738; R-HSA-2022090; R-HSA-3000178; R-HSA-2243919; hsa04926; R-HSA-162582; R-HSA-419037; R-HSA-186797; hsa04974; hsa05200; hsa05146; R-HSA-1474228; R-HSA-1442490; R-HSA-1474244; R-HSA-216083; R-HSA-5653656; hsa04933; R-HSA-1650814; R-HSA-2173782; R-HSA-3000480; R-HSA-8948216; R-HSA-9006934; hsa04510; R-HSA-2214320; hsa04151; R-HSA-3000171 |
| 2 combinations linked to COL4A1 | OLI148; OLI329 |
| 2 variants linked to COL4A1 | COL4A1:c.739C>T, p.Gln247Ter; COL4A1:c.401C>T, p.Pro134Leu |
| 2 diseases linked to COL4A1 | Autosomal dominant polycystic kidney disease; Amyotrophic lateral sclerosis |