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FIGURE: 1 / 1
Positive control: Skin
Cellular location: Secreted.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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, alpha 1; MGC131516
Gene Aliases: ANFH; AOM; COL11A3; COL2A1; SEDC; STL1
UniProt ID: (Human) P02458
Entrez Gene ID: (Human) 1280
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