COL2A1 Rabbit mAb

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. Synonyma: AOM, ACG2, ANFH, LCPD, SEDC, STL1, VPED, ANFH1, EDMMD, OSCDP, PLSDT, SEDSTN, SMDALG, COL11A3, SEMDSTWK