COL6A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL6A1 wild-type allele is located in the vicinity of 21q22.3 and is approximately 23 kb in length. This allele, which encodes collagen alpha-1(VI) chain protein, plays a role in the formation of extracellular matrix microfilaments. Mutations in the gene are associated with Bethlem myopathy 1A and Ullrich congenital muscular dystrophy 1A.

**Synonyms:** - BTHLM1 - BTHLM1A - Collagen Type VI Alpha 1 Chain wt Allele - Collagen VI, Alpha-1 Polypeptide Gene - Collagen, Intimal Gene - Collagen, Type VI, Alpha 1 Gene - Collagen, Type VI, Alpha-1 Gene - OPLL - Short-Chain Collagen Gene - UCHMD1 - UCHMD1A