Quick Search
Products Polyclonal Anti-COL2A1
| Catalogue number: | PA2141 |
| Price: | $200.00 |
| Reactivities: | Human, Mouse, Rat |
| Applications: | Western Blot |
| Size: | 100ug/vial |
| Gene: | COL2A1 |
| Swiss prot: | P02458 |
| Form: | Lyophilized |
| Format: | Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. |
| Storage temp: | At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time.Avoid repeated freezing and thawing. |
| Scientific background: | Collagen, type II, alpha 1, also known as COL2A1, is a human gene which is the major collagen synthesized by chondrocvtes. COL2A1 is mapped to 12q13.11. 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. |
| References: | 1. Donahue, L. R., Chang, B., Mohan, S., Miyakoshi, N., Wergedal, J. E., Baylink, D. J., Hawes, N. L., Rosen, C. J., Ward-Bailey, P., Zheng, Q. Y., Bronson, R. T., Johnson, K. R., Davisson, M. T. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. J. Bone Miner. Res. 18: 1612-1621, 2003. Note: Erratum: J. Bone Miner. Res. 22: 2011 only, 2007. 2. Faivre, L., Le Merrer, M., Douvier, S., Laurent, N., Thauvin-Robinet, C., Rousseau, T., Vereecke, I., Sagot, P., Delezoide, A.-L., Coucke, P., Mortier, G. Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. Am. J. Med. Genet. 126A: 308-312, 2004. |
| Additional info: | A synthetic peptide corresponding to a sequence at the C-terminal of human COL2A1, different from the related rat sequence by one amino acid, and from the related mouse sequence by two amino acids. |
Get the Best Promotions
