Aliases for COL4A6 Gene
External Ids for COL4A6 Gene
Previous GeneCards Identifiers 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 Chain) is a Protein Coding gene. Diseases associated with COL4A6 include Deafness, X-Linked 6 and X-Linked Non-Syndromic Sensorineural Deafness Type Dfn. Among its related pathways are ERK Signaling and Cell adhesion_Endothelial cell contacts by non-junctional mechanisms. Gene Ontology (GO) annotations related to this gene include structural molecule activity and extracellular matrix structural constituent. An important paralog of this gene is COL4A4.
UniProtKB/Swiss-Prot Summary 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.