COL6A2 Proteins

Protein Information

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.

Synonyms

BTHLM1; Col6a2; Col6a-2; collagen alpha-2(VI) chain; collagen type VI alpha 2; collagen VI, alpha-2 polypeptide; collagen, type VI, alpha 2; human mRNA for collagen VI alpha-2 C-terminal globular domain; PP3610; procollagen, type VI, alpha 2; UCMD1