Col4a4 - collagen, type IV, alpha 4

An extracellular matrix structural constituent. Acts upstream of or within glomerular basement membrane development. Located in basement membrane. Part of collagen type IV trimer. Is expressed in glomerular tuft and testis. Used to study autosomal recessive Alport syndrome. Human ortholog(s) of this gene implicated in autosomal recessive Alport syndrome; benign familial hematuria; and end stage renal disease. Orthologous to human COL4A4 (collagen type IV alpha 4 chain). [provided by Alliance of Genome Resources, Apr 2022]