Description
Collagen alpha-1(IV) chain is a protein that in humans is encoded by the COL4A1 gene. Type IV collagen is the major structural component of glomerular basement membranes(GBM), forming a'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. 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. Mutations in COL4A1 exons 24 and 25 are associated with HANAC(autosomal dominant hereditary angiopathy with nephropathy,aneurysms, and muscle cramps)