Description
Collagens are major fibrous structural elements of cartlilage, tendon, bone, skin, lung, and blood vessels. Type III collagen consists of three alpha1(III) chains and is most often found in skin, blood vessels, and internal organs. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy