Collagen VI [3C4]

Collagen VI is a major structural component of microfibrils. Collagen VI was found to be present throughout the connective tissue and in the extracellular matrix of cultured fibroblasts. It is a heterotrimer composed of three different chains: alpha-1, alpha-2, and alpha-3 or alpha-5 or alpha-6. Defects in Collagen VI are a cause of Bethlem myopathy (BM). BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles. Defects in Collagen VI are a cause of Ullrich congenital muscular dystrophy (UCMD). UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.Mutations in this gene result in Bethlem myopathy and Ullrich congenital muscular dystrophy.