NCIt synonyms : UCMD1; Collagen, Type VI, Alpha-3 Gene; BTHLM1; Collagen, Type VI, Alpha 3 Gene; DYT27; Collagen Type VI Alpha 3 Chain wt Allele;
NCIt definition : Human COL6A3 wild-type allele is located in the vicinity of 2q37.3 and is approximately
90 kb in length. This allele, which encodes collagen alpha-3(VI) chain protein, is
involved in beaded filament collagen formation. Mutation of the gene is associated
with Bethlem myopathy, type 27 dystonia and Ullrich congenital muscular dystrophy.;