

Supplier:
BOSTER IMMUNOLEADERCat no: PA2141
Polyclonal Anti-COL2A1
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SPECIFICATIONS
Price
200.00 USD
Catalog Number
PA2141
Size
100ug/vial
Applications
WB
Reactivities
Hum, Mouse, Rat
Form
Lyophilized
Format
Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3.
Gene Id
COL2A1
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.\n2. 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.\n
Swiss Prot
P02458
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.
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.
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.
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