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COL2A1 is the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia.
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Protein Aliases: Alpha-1 type II collagen; arthroophthalmopathy, progressive (Stickler syndrome); cartilage collagen; CGA; chondrocalcin; Collagen 2; Collagen alpha-1(II) chain; collagen II, alpha-1 polypeptide; collagen type II (Col2A1) gene, enhancer region; collagen type IIA; collagen, type II, alpha 1; disproportionate micromelia; MGC131516; pro alpha1 type II collagen; Procollagen II alpha 1; procollagen, type II, alpha 1
Gene Aliases: ANFH; AOM; CG2A1A; COL11A3; Col2; Col2a; Col2a-1; COL2A1; COLLII; Del1; Dmm; Lpk; M100856; Rgsc856; SEDC; STL1
UniProt ID: (Human) P02458, (Rat) P05539, (Mouse) P28481
Entrez Gene ID: (Human) 1280, (Rabbit) 100009005, (Rat) 25412, (Mouse) 12824
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