Collagen type IV alpha-5 chain (COL4A5)

Collagen type IV alpha-5 chain is a major structural subunit of type IV collagen, the principal component of basement membranes that separate and support epithelial and endothelial cells in many tissues. The protein is encoded by the COL4A5 gene, which is located on the X chromosome. The alpha-5(IV) chain combines with alpha-3 and alpha-4 chains to produce the alpha345(IV) collagen trimer, which assembles into a complex network supporting the structural integrity and function of basement membranes, particularly in the kidney glomerulus, inner ear, and eye. Mutations in COL4A5 disrupt basement membrane structure and lead to Alport syndrome, an X-linked disorder characterized by progressive kidney disease, sensorineural hearing loss, and ocular abnormalities. Diagnosis is based on genetic testing for COL4A5 mutations and the absence of the alpha-5(IV) chain in tissue samples; COL4A5 itself is not a direct therapeutic target but is central to the pathogenesis and diagnosis of several genetic diseases.

Other names

Collagen alpha-5(IV) chainCOL4A5ASLNATSATS1CA54Collagen IV, alpha-5 polypeptideCollagen of basement membrane, alpha-5 chainCollagen, type IV, alpha 5Collagen, type IV, alpha 5 (Alport syndrome)CO4A5_HUMAN

Not applicable; drugs do not directly target COL4A5 protein, but some therapies (such as ACE inhibitors) are used to address symptoms or complications of Alport syndrome by modulating blood pressure to delay progression of kidney disease