Profil protéine

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.

Gene names and symbols associated with COL6a3

• collagen type VI alpha 3 chain (COL6A3) anticorps
• collagen, type VI, alpha 3 (col6a3) anticorps
• collagen, type VI, alpha 3 (Col6a3) anticorps
• collagen type VI alpha 3 chain (Col6a3) anticorps

• AI507288 anticorps
• Col6a-3 anticorps
• COL6A3 anticorps
• wu:fb06e12 anticorps
• wu:fs74g09 anticorps

Protein level used designations for COL6a3

collagen alpha-3(VI) chain , type VI collagen alpha 3 chain , alpha 3 type VI collagen , collagen, type VI, alpha 3 , collagen alpha-3(VI) chain-like , collagen alpha 3 chain type VI , collagen alpha3(VI) , procollagen, type VI, alpha 3 , type VI collagen alpha 3 subunit , collagen VI, alpha-3 polypeptide , alpha-3 collagen type VI , collagen type VI alpha 3