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Invitrogen
COL6A3 Polyclonal Antibody
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FIGURE: 1 / 1
COL6A3 Antibody (PA5-112163) in WB
Product Details
PA5-112163
Species Reactivity
Host/Isotype
Class
Type
Immunogen
Conjugate
Form
Purification
Storage buffer
Contains
Storage conditions
Shipping conditions
RRID
Product Specific Information
This product can be used in direct ELISA.
Target Information
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].
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
References (0)
Bioinformatics
Protein Aliases: CO6A3; Collagen alpha-3(VI) chain; collagen VI, alpha-3 polypeptide; collagen, type VI, alpha 3
Gene Aliases: BTHLM1; COL6A3; DYT27; UCMD1
UniProt ID: (Human) P12111
Entrez Gene ID: (Human) 1293
Performance Guarantee
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
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