Collagen Type VI (COL6)
Collagen VI is a form of collagen primarily associated with the extracellular matrix of skeletal muscle.It is associated with the genes COL6A1, COL6A2, and COL6A3.Defects are associated with Bethlem myopathy and Ullrich congenital muscular dystrophy.
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. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.
Organism species: Homo sapiens (Human)
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Organism species: Mus musculus (Mouse)
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