ASLN antibody, ATS antibody, CA54 antibody, RGD1565499 antibody, col4a5 antibody, fj65e07 antibody, im:7157877 antibody, si:ch211-174g17.1 antibody, wu:fj65e07 antibody, collagen type IV alpha 5 chain antibody, collagen, type IV, alpha 5 antibody, collagen, type IV, alpha 1 antibody, COL4A5 antibody, Col4a5 antibody, col4a1 antibody, LOC100285389 antibody
Background
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.