COL11A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL11A1 wild-type allele is located in the vicinity of 1p21 and is approximately 232 kb in length. This allele, which encodes collagen alpha-1(XI) chain protein, plays a role in modulation of cartilage structure. Mutations in the gene are associated with both Stickler syndrome type 2 and Marshall syndrome.

**Synonyms:** - CO11A1 - COLL6 - Collagen Type XI Alpha 1 wt Allele - Collagen, Type XI, Alpha 1 Gene - STL2