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