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Sequence of this protein is as follows: MSAFAGLGPR EKGPDPLQYM RADQAAGGLR QHDAEVDATL KSLNNQIESI RSPEGSRKNP ARTCRDLKLC HPEWKSGDYW IDPNQGCTLD AMKVFCNMET GETCVYPNPA NVPKKNWWSS KSKEKKHIWF GETINGGFHF SYGDDNLAPN TANVQMTFLR LLSTEGSQNI TYHCKNSIAY LDEAAGNLKK ALLIQGSNDV EIRAEGNSRF TYTALKDGCT KHTGKWGKTV IEYRSQKTSR LPIIDIAPMD IGGPEQEFGV DIGPVCFL
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; arthroophthalmopathy, progressive (Stickler syndrome); cartilage collagen; CGA; chondrocalcin; Collagen 2; Collagen alpha-1(II) chain; collagen II, alpha-1 polypeptide; collagen, type II, alpha 1; MGC131516
基因别名: ANFH; AOM; COL11A3; COL2A1; SEDC; STL1
UniProt ID: (Human) P02458
Entrez Gene ID: (Human) 1280