COL4A4, Official Symbol COL4A4provided by HGNC Official Full Name collagen type IV alpha 4 chainprovided by HGNC Primary source HGNC:HGNC:2206 See related Ensembl:ENSG00000081052 MIM:120131; AllianceGenome:HGNC:2206 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BFH; ATS2; BFH1; CA44 Summary This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. 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. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 5.3), thyroid (RPKM 4.9) and 18 other tissues See more Orthologs mouse all