Description
Product Characteristics: Alpha 1 type II collagen antibody, Alpha-1 type II collagen antibody, AOM antibody, Cartilage collagen antibody, Chondrocalcin antibody, CO2A1_HUMAN antibody, COL11A3 antibody, Col2a1 antibody, Collagen 2 antibody, Collagen II alpha 1 polypeptide antibody, SEDC antibody
Target Information: 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. [provided by RefSeq, Jul 2008]