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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| COL2A1-20-RE | 20 (40 μL) | 200 μL |  |
Request Pricing |
| COL2A1-20-OR | 20 (40 μL) | 200 μL |  |
Request Pricing |
| COL2A1-20-GO | 20 (40 μL) | 200 μL |  |
Request Pricing |
| COL2A1-20-GR | 20 (40 μL) | 200 μL |  |
Request Pricing |
| COL2A1-20-AQ | 20 (40 μL) | 200 μL |  |
Request Pricing |
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]
Gene Symbol : COL2A1
Gene Name : Collagen type II alpha 1 chain
Chromosome : CHR 12: 480,062,11-479,729,64
Locus : 12q13.11
Alt. Genes : SLC25A13
Lorem Ipsum is simply dummy text of the printing and typesetting industry.
Lorem Ipsum is simply dummy text of the printing and typesetting industry.