{"symbol":"COL4A5","synonyms":["ASLN","CA54"],"name":"collagen, type IV, alpha 5","description":"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]","ncbiEntrezGeneId":1287,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/1287","proteins":[{"symbol":"CO4A5_HUMAN","href":"/api/1.0/protein/CO4A5_HUMAN"}],"hgncRootFamilies":[{"name":"Collagens (COL)","href":"/api/1.0/gene_family/Collagens+%28COL%29"}]}