COL6A3 Polyclonal Antibody

disease:Defects in COL6A3 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.,disease:Defects in COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as Ullrich scleroatonic muscular dystrophy. 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.,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.,PTM:The N-terminus is blocked.,similarity:Belongs to the type VI collagen family.,similarity:Contains 1 BPTI/Kunitz inhibitor domain.,similarity:Contains 1 fibronectin type-III domain.,similarity:Contains 12 VWFA domains.,similarity:Contains 16 LRR (leucine-rich) repeats.,similarity:Contains 5 collagen-like 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).,