External References:
Wikipedia
GeneCards
HUGO
COSMIC
Google Scholar
NCBI Description of COL4A5 |
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. |
Community Annotation of COL4A5 Add / Edit COL4A5: Annotations
No community annotations yet for COL4A5.
|
Figure notes
• "Mouse over" a mutation to see details. |
|
Click on a tumor type to see its full list of significant genes.
Data details