The COL4A4 gene is located on chromosome 2q36.3 and encodes one of the six subunits of type IV collagen, which is the major structural component of basement membranes. Two transcripts were identified for the COL4A4 gene, differing only in their transcription start sites. 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.
COL4A4 Gene
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Mutations in this gene are associated with autosomal recessive Alport syndrome type II (hereditary glomerulonephropathy) and familial benign hematuria (thin basement membrane disease). An important paralog of this gene is COL4A6.