COL6A2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL6A2 wild-type allele is located in the vicinity of 21q22.3 and is approximately 35 kb in length. This allele, which encodes collagen alpha-2(VI) chain protein, is involved in the promotion of cell-matrix adhesion. Mutations in the gene are associated with congenital myosclerosis, Bethlem myopathy 1B and Ullrich congenital muscular dystrophy 1B.

**Synonyms:** - BTHLM1 - BTHLM1B - Collagen Type VI Alpha 2 Chain wt Allele - Collagen Type VI Alpha 2 Gene - Collagen VI, Alpha-2 Polypeptide Gene - Collagen, Type VI, Alpha 2 Gene - Collagen, Type VI, Alpha-2 Gene - Human mRNA mor Collagen VI Alpha-2 C-Terminal Globular Domain Gene - PP3610 - UCHMD1 - UCMD1B