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COL6A2 encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. Additionally we are shipping Collagen, Type VI, alpha 2 Antibodies (58) and Collagen, Type VI, alpha 2 Kits (5) and many more products for this protein.
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Genetic study showed a missense mutation in COL6A2 (c.820 G>A, p.Gly268Ser) that causes a glycine substitution in the Gly-X-Y collagenous motif, at the beginning of the collagenous triple helical domain. The c.820 G>A mutation segregated in all the affected patients.
Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1 (show COL6A1 Proteins), COL6A2, and COL6A3 (show COL6a3 Proteins)) 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.
Mutations in COL6A2 gene are associated with aberrant mitochondria in Bethlem myopathy.
In UCMD, 8 mutations were identified in COL6A2 in Chinese patients.
Mutations in each of the three collagen VI genes, COL6A1 (show COL6A1 Proteins), COL6A2 and COL6A3 (show COL6a3 Proteins), cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review)
COL6A2 is overexpressed in Down syndrome-affected umbilical cords at early and term gestational ages.
Homozygous COL6A2 mutation, p.Asp215Asn, was identified in both affected siblings. We conclude that the COL6A2 p.Asp215Asn mutation is likely to be responsible for PME (show CSTB Proteins) (Progressive Myoclonus Epilepsy) in this family.
A deletion within intron 1A of the COL6A2 gene, occurring in compound heterozygosity with a small deletion in exon 28, was identified in a BM patient.
the C2A splice variant has a role in recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy
The alpha2(VI) chain modulates matrix-metalloproteinase (MMP) availability by sequestering proMMPs in the extracellular matrix, blocking proteolytic activity.
gamma-sarcoglycan (show SGCG Proteins)-null/Col6a2Deltaex5 (Col6a2 deficient) mice exhibit reduced muscle pathology compared with gamma-sarcoglycan (show SGCG Proteins)-null mice. Specifically, fewer muscle fibers are degenerating, fiber size varies less. Surprisingly, in spite of this reduction in muscle pathology, muscle function is not significantly improved.
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.
collagen alpha-2(VI) chain
, alpha 2 type VI collagen
, collagen, type VI, alpha 2
, collagen VI, alpha-2 polypeptide
, human mRNA for collagen VI alpha-2 C-terminal globular domain
, collagen type VI alpha 2
, procollagen, type VI, alpha 2
, type VI collagen alpha-2 subunit