This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. 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 this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| COL6A2BA-20-REGO | 20 (40 μL) | 200 μL |
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| COL6A2BA-20-REGR | 20 (40 μL) | 200 μL |
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| COL6A2BA-20-ORGR | 20 (40 μL) | 200 μL |
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| COL6A2BA-20-GOGR | 20 (40 μL) | 200 μL |
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| COL6A2BA-20-GRRE | 20 (40 μL) | 200 μL |
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| COL6A2BA-20-GROR | 20 (40 μL) | 200 μL |
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| COL6A2BA-20-GRGO | 20 (40 μL) | 200 μL |
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| COL6A2BA-20-AQOR | 20 (40 μL) | 200 μL |
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This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. 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 this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Symbol : COL6A2
Gene Name : Collagen type VI alpha 2 chain
Chromosome : CHR 21: 460,980,70-461,328,48
Locus : 21q22.3
Alt. Genes : LRPPRC
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