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.COL6A2 (Collagen Type VI Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL6A2 include Ullrich Congenital Muscular Dystrophy 1 and Myosclerosis, Congenital. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. An important paralog of this gene is COL6A1.