Gene:
collagen, type IV, alpha 5 (Alport syndrome)
Gene ID:
201977
Symbol:
COL4A5
Species:
1000
Description:
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. Three transcript variants have been identified for this gene.