COL6A3 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - BTHLM1 - Collagen Type VI Alpha 3 Chain wt Allele - Collagen, Type VI, Alpha 3 Gene - Collagen, Type VI, Alpha-3 Gene - DYT27 - UCMD1