Collagen II Monoclonal Antibody, APC Conjugated

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]

Collagen II alpha 1; COL2A1; COL2A1 protein; collagen, type II, alpha 1; collagen alpha-1 (II) ; type II collagen; alpha-1 type II collagen; alpha1 type II collagen; Col2a1; AOM; Cartilage collagen; Chondrocalcin; COL11A3; Collagen alpha 1 (II) chain precursor; Collagen II alpha 1 polypeptide; Collagen type II alpha 1 (primary osteoarthritis spondyloepiphyseal dysplasia congenital) ; MGC131516; SEDC; Collagen alpha-1 (II) chain; Alpha-1 type II collagen; CO2A1_HUMAN.