Search results for abx027864

Collagen Type II Alpha 1 (COL2A1) Antibody, Abbexa, abx027864

Alpha-1 chain of type II collagen is a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutant forms of this protein 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.