Gene:  COL6A3, Human

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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]

PrimePCR™ SYBR® Green Assay: COL6A3, Human
collagen, type VI, alpha 3

Assay Type: SYBR® Green
Assay Design: exonic
Application: Gene Expression
Unique Assay ID: qHsaCED0046071
Info:   Recommended - best coverage; Same primer pair as used in probe assay qHsaCEP0053332
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PrimePCR™ SYBR® Green Assay: COL6A3, Human
collagen, type VI, alpha 3

Assay Type: SYBR® Green
Assay Design: Intron-spanning
Application: Gene Expression
Unique Assay ID: qHsaCID0007057
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PrimePCR™ Probe Assay: COL6A3, Human
collagen, type VI, alpha 3

Assay Type: Probe
Assay Design: exonic
Application: Gene Expression
Unique Assay ID: qHsaCEP0053332
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    Related pathways not available
Number Description Download
6262 PrimePCR Assays: Meeting the MIQE Guidelines by Full Wet-Lab Validation, Rev B Click to download
6263 PrimePCR Pathway Analysis: Pathway Curation and Real-Time PCR Panel Design Strategy, Rev B Click to download
6290 PrimePCR Assays and Panels Brochure, Rev D Click to download
LIT10026370 Instruction Manual, PrimePCR Assays, Panels, and Controls, Rev E Click to download
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