NCIt synonyms : Collagen, Type XI, Alpha 1 Gene; STL2; COLL6; CO11A1; Collagen Type XI Alpha 1 wt Allele;
NCIt 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.;