84-5441-60　［取扱停止］COL6A3 30ul　534932

特徴

• COL6A3 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.
• Applications:Suitable for use in Immunohistochemistry, Immunofluorescence, and ELISA.
• Other applications not tested.
• Recommended Dilution:Immunohistochemistry (paraffin): 1:100-1:300Immunofluorescence: 1:200-1:1000ELISA: 1:40,000Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.