COL4A5, Official Symbol COL4A5provided by HGNC Official Full Name collagen type IV alpha 5 chainprovided by HGNC Primary source HGNC:HGNC:2207 See related Ensembl:ENSG00000188153 MIM:303630; AllianceGenome:HGNC:2207 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 ATS; ASLN; ATS1; CA54 Summary This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] Expression Broad expression in endometrium (RPKM 21.7), skin (RPKM 10.8) and 20 other tissues See more Orthologs mouse all