COL6A2 Antibody (monoclonal) (M01)
Mouse monoclonal antibody raised against a full length recombinant COL6A2.
|Calculated MW||108579 Da|
|Other Names||Collagen alpha-2(VI) chain, COL6A2|
|Target/Specificity||COL6A2 (AAH02484, 1 a.a. ~ 425 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||COL6A2 Antibody (monoclonal) (M01) is for research use only and not for use in diagnostic or therapeutic procedures.|
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Provided below are standard protocols that you may find useful for product applications.
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.
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. Bovolenta M, et al. BMC Med Genet, 2010 Mar 19. PMID 20302629.Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. Zhang RZ, et al. J Biol Chem, 2010 Mar 26. PMID 20106987.The alpha 2 chain of collagen type VI sequesters latent proforms of matrix-metalloproteinases and modulates their activation and activity. Freise C, et al. Matrix Biol, 2009 Oct. PMID 19698785.Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. Martoni E, et al. Hum Mutat, 2009 May. PMID 19309692.Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. Chapuis J, et al. Mol Psychiatry, 2009 Nov. PMID 19204726.
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