Automated description from the Alliance of Genome Resources (Release 7.5.0)
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 embryo; 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).
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