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更新时间:2025-08-10
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Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene. The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. 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. Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.