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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Alpha-1 type II collagen; CGA; Collagen 2; Collagen alpha-1(II) chain; collagen, type II, alpha 1; MGC131516; pro-alpha 1(II); unnamed protein product
基因别名: CB11; COL2A1
UniProt ID: (Bovine) P02459
Entrez Gene ID: (Bovine) 407142