Aliases for COL4A6 Gene
External Ids for COL4A6 Gene
This gene encodes one of the six subunits of type IV collagen, the major structural component 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
GeneCards Summary for COL4A6 Gene
COL4A6 (Collagen, Type IV, Alpha 6) is a Protein Coding gene. Diseases associated with COL4A6 include leiomyomatosis and x-linked non-syndromic sensorineural deafness type dfn. Among its related pathways are PI3K-Akt signaling pathway and Pathways in cancer. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL3A1.
UniProtKB/Swiss-Prot for COL4A6 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