Aliases for COL4A5 Gene
External Ids for COL4A5 Gene
Previous HGNC Symbols for COL4A5 Gene
Previous GeneCards Identifiers for COL4A5 Gene
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]
GeneCards Summary for COL4A5 Gene
COL4A5 (Collagen Type IV Alpha 5) is a Protein Coding gene. Diseases associated with COL4A5 include Alport Syndrome and Arterial Tortuosity Syndrome. Among its related pathways are ERK Signaling and Cell adhesion_Endothelial cell contacts by non-junctional mechanisms. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL3A1.
UniProtKB/Swiss-Prot for COL4A5 Gene
Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a chicken-wire meshwork together with laminins, proteoglycans and entactin/nidogen.