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COL6A3 FISH Probe

Empire Genomics has developed a COL6A3 FISH Probe assay which can be used to detect COL6A3 gene aneusomy. The probe comes labeled in orange, and you may also choose to customize the probe to meet your needs.

** This product is for in vitro and research use only. This product is not intended for diagnostic use.

Turnaround Time: 7-10 Business Days    Shipping Time: 1-2 Day Expedited Shipping

SKU Test Kits Buffer Dye Color Order Now
COL6A3-20-OR  (Standard Design) 20 (40 μL) 200 μL
COL6A3-20-GO 20 (40 μL) 200 μL
COL6A3-20-GR 20 (40 μL) 200 μL
COL6A3-20-AQ 20 (40 μL) 200 μL
COL6A3-20-RE 20 (40 μL) 200 μL

Gene Summary

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]

Gene Details

Gene Symbol: COL6A3

Gene Name: Collagen Type VI Alpha 3 Chain

Chromosome: CHR2: 238232654-238322850

Locus: 2q37.3

FISH Probe Protocols

Protocol, Procedure, or Form Name Last Modified Download

Customer Publications

There are currently no FISH related publications for this gene.