Aliases for COL4A4 Gene
External Ids for COL4A4 Gene
Previous GeneCards Identifiers for COL4A4 Gene
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset 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 so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL4A4 Gene
COL4A4 (Collagen Type IV Alpha 4 Chain) is a Protein Coding gene. Diseases associated with COL4A4 include Hematuria, Benign Familial and Alport Syndrome 2, Autosomal Recessive. 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 extracellular matrix structural constituent. An important paralog of this gene is COL4A6.
UniProtKB/Swiss-Prot Summary for COL4A4 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.