GENE NAME | COL4A6 |
CHROMOSOME | X |
ENSEMBL ID | ENSG00000197565 |
ENTREZ ID | 1288 |
UNIPROT ACCESSION NUMBER | Q14031 |
GO MOLECULAR FUNCTION | extracellular matrix structural constituent conferring tensile strength; extracellular matrix structural constituent; protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04926; R-HSA-2243919; hsa05200; hsa04974; R-HSA-216083; R-HSA-1474244; R-HSA-1442490; hsa05146; R-HSA-1474228; R-HSA-3000171; hsa05222; R-HSA-2022090; R-HSA-3000178; R-HSA-8948216; hsa05165; R-HSA-1474290; R-HSA-3000157; hsa04512; hsa04933; R-HSA-1650814; hsa04510; hsa04151; R-HSA-2214320 |
1 combination linked to COL4A6 | OLI318 |
1 variant linked to COL4A6 | COL4A6:c.4825G>A, p.Ala1609Thr |
2 diseases linked to COL4A6 | Benign familial hematuria; Alport syndrome |