This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
ddPCR™ probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.
Info: FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0053332; exonic
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]