COL2A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL2A1 wild-type allele is located within 12q13.11-q13.2 and is approximately 32 kb in length. This allele, which encodes collagen alpha-1(II) chain protein, is involved in the mediation of both cartilage structure and skeletal development. Mutations in the gene are associated with a large number of inherited disorders.

**Synonyms:** - ANFH - AOM - COL11A3 - Collagen, Type II, Alpha 1 wt Allele - MGC131516 - SEDC