Aliases for COL4A3 Gene
External Ids for COL4A3 Gene
Previous GeneCards Identifiers for COL4A3 Gene
Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. 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. [provided by RefSeq, Jun 2010]
GeneCards Summary for COL4A3 Gene
COL4A3 (Collagen Type IV Alpha 3 Chain) is a Protein Coding gene. Diseases associated with COL4A3 include Alport Syndrome 3, Autosomal Dominant 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 structural molecule activity and extracellular matrix structural constituent. An important paralog of this gene is COL4A1.
UniProtKB/Swiss-Prot Summary for COL4A3 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.
Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms.