COL6A3
collagen, type VI, alpha 3
别名:
物种:
Human COL6A3 (1293), Mouse Col6a3 (12835), Rat Col6a3 (367313), dog COL6A3 (403582), chicken COL6A3 (396548), domestic guinea pig Col6a3 (100716662), cow COL6A3 (530657), naked mole-rat Col6a3 (101717072), Zebrafish col6a3 (556874), domestic cat COL6A3 (101081323)
UniProtKB ID:
基因ID:
- Human(1293) Summary: 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]
- Mouse(12835) collagen, type VI, alpha 3
- Rat(367313) collagen, type VI, alpha 3
- dog(403582) collagen, type VI, alpha 3
- chicken(396548) collagen, type VI, alpha 3
- domestic guinea pig(100716662) collagen, type VI, alpha 3
- cow(530657) collagen, type VI, alpha 3
- naked mole-rat(101717072) collagen, type VI, alpha 3
- Zebrafish(556874) collagen, type VI, alpha 3
- domestic cat(101081323) collagen, type VI, alpha 3
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