COL2A1 Monoclonal Antibody

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.

Alpha 1 type II collagen, Alpha-1 type II collagen, AOM, Cartilage collagen, Chondrocalcin, CO2A1, COL11A3, Col2a1, Collagen II alpha 1 polypeptide, SEDC