Collagen, type II, alpha 1is 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.
The COL2A1 gene is located on the long (q) arm of chromosome 12 between positions 13.11 and 13.2, from base pair 46,653,017 to base pair 46,684,527.
Applications:Suitable for use in Western Blot, Immunohistochemistry, Immunocytochemistry.
Other applications not tested.
Recommended Dilution:ELISA: 1:100-1:5000Western Blot: 1:50-400Immunocytochemistry: 1:50-500Immunohistochemistry (frozen): 1:50-500Immunohistochemistry (paraffin): 1:10-100Optimal dilutions to be determined by the researcher.