Collagen type IV alpha-4 chain (COL4A4)

Collagen type IV alpha-4 chain (COL4A4) is a structural protein encoded by the COL4A4 gene, one of six genetically distinct alpha chains forming type IV collagen, the main structural component of basement membranes in various tissues. It forms heterotrimers with other alpha (IV) chains (notably alpha-3 and alpha-5), contributing significantly to the structural scaffolding and integrity of basement membranes, particularly in the kidney glomerulus, inner ear, and eye. Mutations in COL4A4 cause structural network disruption, leading to genetic diseases such as Alport syndrome (characterized by progressive renal failure, hearing loss, and ocular abnormalities) and benign familial hematuria. COL4A4 is not a classic therapeutic drug target such as a receptor, enzyme, or transporter, but its function as a core basement membrane protein means that its genetic variants serve as important disease biomarkers and diagnostic markers in hereditary kidney and basement membrane disorders.

Other names

Collagen alpha-4(IV) chainCA44collagen of basement membrane alpha-4 chaincollagen type IV alpha 4collagen IV alpha-4 polypeptideATS2BFHBFH1collagen, type IV, alpha 4CO4A4_HUMAN