DATASHEET
Entrez Gene:
1280
Swiss Prot:
P02458
Source:
Recombinant human COL2A1 protein in E.coli with N-GST&C-His. It contains the amino acid sequence of 1220-1282/1487
Storage Buffer:
0.01M TBS(pH7.4)
Storage:
The product should be stored at -70°C or -20°C.
Background:
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]
Sequence:
1220-1282/1487