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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.
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Data show that the TFIID subunit (show TAF6 Antibodies) TAF4 (show TAF4 Antibodies) 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 Antibodies), suggesting that alpha3(VI) collagen does not elicit essential functions in normal growth and development
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 Antibodies)) 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 Antibodies), COL6A2 (show COL6A2 Antibodies), 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 Antibodies) 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 study showed that COL6A3 expression appeared to be lowered in obesity, whereas diet- and surgery-induced weight loss increased COL6A3 expression.
Mutations in each of the three collagen VI genes, COL6A1 (show COL6A1 Antibodies), COL6A2 (show COL6A2 Antibodies) and COL6A3, cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review)
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