disease:Defects in COL6A1 are a cause of Bethlem myopathy (BM) [MIM:158810]. 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.,function:Collagen VI acts as a cell-binding protein.,PTM:Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.,similarity:Belongs to the type VI collagen family.,similarity:Contains 3 VWFA domains.,subunit:Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).,
Secreted, extracellular space, extracellular matrix .
Blood,Brain,Fetal brain cortex,Fibroblast,Kidney,Liver,Ovary,Placenta,
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