This gene encodes 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. There are two transcripts identified for this gene.
Aliases： AOM; ANFH; SEDC; STL1; COL11A3
Entrez GeneID ： 1280
Swissprot ： P02458
WB Predicted band size： 142kDa
Host/Isotype： Mouse IgG1
Species Reactivity ： Human
Immunogen： Purified recombinant fragment of human COL2A1 (AA: 1222-1487) expressed in mammalian.
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