Health / Medical Topics |
COL11A1 wt Allele
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. (NCI Thesaurus)
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