External Ids for COL6A3 Gene
This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
GeneCards Summary for COL6A3 Gene
COL6A3 (Collagen, Type VI, Alpha 3) is a Protein Coding gene. Diseases associated with COL6A3 include bethlem myopathy and ullrich congenital muscular dystrophy. Among its related pathways are PI3K-Akt signaling pathway and Signaling by FGFR. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SCARA3.
UniProtKB/Swiss-Prot for COL6A3 Gene
Collagen VI acts as a cell-binding protein