anticorps PP3610, anticorps Col6a-2, anticorps collagen type VI alpha 2 chain, anticorps collagen, type VI, alpha 2, anticorps COL6A2, anticorps col6a2, anticorps Tcur_3411, anticorps Col6a2
Sujet
COL6A2 is 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. [provided by RefSeq].Synonyms: COL6A2