COL6A3 Polyclonal Antibody, Invitrogen™

Description

• The antibody detects endogenous levels of total COL6A3 protein
• 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].