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： 141.8kDa
Host/Isotype ： Mouse IgG1
Species Reactivity： Human
Immunogen： Purified recombinant fragment of human COL2A1 (AA: 1222-1487) expressed in HEK293-6e cells supernatant.
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