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.
Immunogen Information
Immunogen
Synthetic Peptide of Collagen II
Swissprot
P02458
Synonyms
Alpha 1 type II collagenAlpha-1 type II collagenAOMCartilage collagenChondrocalcinCO2A1COL11A3Col2a1Collagen II alpha 1 polypeptideSEDC
Applications
Reactivity
Human,Mouse,Rat
Tested Applications
IHC-p
Conjugation
Unconjugated
Dilution
IHC 1:50-300
Concentration
1 mg/mL
Storage Buffer
PBS with 0.02% sodium azide and 50% glycerol pH 7.4.