Details for Gene COL4A6

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

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