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COL6a3 encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. Additionally we are shipping COL6a3 Antibodies (19) and COL6a3 Proteins (4) and many more products for this protein.
Showing 8 out of 22 products:
Human COL6a3 ELISA Kit for Sandwich ELISA - ABIN417870
Kang, Wang, Axell-House, Soni, Chu, Chipitsyna, Sarosiek, Sendecki, Hyslop, Al-Zoubi, Yeo, Arafat: Clinical significance of serum COL6A3 in pancreatic ductal adenocarcinoma. in Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract 2014
Show all 2 Pubmed References
Data show that the TFIID subunit TAF4 (show TAF4 ELISA Kits) is essential to restrain the growth promoting properties of collagen 6A3 (Col6a3).
mice lacking normal alpha3(VI) collagen chains display mild musculoskeletal phenotypes similar to mice deficient in the alpha1(VI) collagen alpha chain (show FCGRT ELISA Kits), suggesting that alpha3(VI) collagen does not elicit essential functions in normal growth and development
Study found COL6A3 expression to be downregulated and associated with poor prognosis in human colorectal cancer (CRC (show CALR ELISA Kits)). In silico analysis of cell typespecific gene expression and COL6A3 knockout experiments indicated the clinical relevance of COL6A3 in the development of CRC (show CALR ELISA Kits).
two compound heterozygous mutations in COL6A3 gene lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.
COL6A3-associated dystonia represents a newly identified autosomal-recessive entity characterized clinically by an early symptom onset with variable distribution.
Patients with chronic kidney disease (CKD) are at increased risk of end-stage renal disease (ESRD) and early mortality. Serum endotrophin, a COL6A3 cleavage product was significantly associated with progression to ESRD.
In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question.
Data indicate that circulating plasma COL6A3 in colorectal cancer (CRC (show CALR ELISA Kits)) patients was upregulated significantly comparing with healthy peoples.
Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1 (show COL6A1 ELISA Kits), COL6A2 (show COL6A2 ELISA Kits), and COL6A3) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring.
Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Increased adipocyte COL6A3 expression associates with insulin (show INS ELISA Kits) resistance; COL6A3 mRNA associates with small adipocyte size
The heterozygous c.3353A>C mutation in exon 8 of the COL6A3 gene is associated with the Bethlem myopathy with autosomal dominant inheritance.
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.
collagen alpha-3(VI) chain
, type VI collagen alpha 3 chain
, alpha 3 type VI collagen
, collagen, type VI, alpha 3
, collagen alpha-3(VI) chain-like
, collagen alpha 3 chain type VI
, collagen alpha3(VI)
, procollagen, type VI, alpha 3
, type VI collagen alpha 3 subunit
, collagen VI, alpha-3 polypeptide
, alpha-3 collagen type VI
, collagen type VI alpha 3