Collagen, type IV, alpha 1

Collagen alpha-1(IV) chain is a is_associated_with::protein that in humans is encoded by the COL4A1 is_associated_with::gene.

Function
This gene encodes the major type IV alpha is_associated_with::collagen chain of basement membranes. 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.

Clinical significance
Mutations in COL4A1 exons 24 and 25 are associated with HANAC (is_associated_with::autosomal dominant hereditary is_associated_with::angiopathy with is_associated_with::nephropathy, is_associated_with::aneurysms, and is_associated_with::muscle cramps). It has also been confirmed that mutations in the COL4A1 gene occur in some patients with is_associated_with::porencephaly and is_associated_with::schizencephaly.