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