Aliases for COL4A5 Gene
External Ids for COL4A5 Gene
Previous Symbols 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 malignant cylindroma and alport syndrome and thin basement membrane nephropathy. Among its related pathways are PI3K-Akt signaling pathway and Signaling by FGFR. 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