| Product Name | Human Collagen II Recombinant Protein |
|---|---|
| Gene Symbol | COL2A1 |
| Gene Synonyms | AOM ACG2 ANFH LCPD SEDC STL1 VPED ANFH1 EDMMD OSCDP PLSDT SEDSTN SMDALG COL11A3 SEMDSTWK |
| Gene Full Name | collagen type II alpha 1 chain |
| Gene Summary | 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] |
