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 |
|---|---|---|---|---|
| COL2A1BA-20-REGO | 20 (40 μL) | 200 μL |
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| COL2A1BA-20-REGR | 20 (40 μL) | 200 μL |
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| COL2A1BA-20-ORGR | 20 (40 μL) | 200 μL |
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| COL2A1BA-20-GOGR | 20 (40 μL) | 200 μL |
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| COL2A1BA-20-GRRE | 20 (40 μL) | 200 μL |
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| COL2A1BA-20-GROR | 20 (40 μL) | 200 μL |
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| COL2A1BA-20-GRGO | 20 (40 μL) | 200 μL |
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| COL2A1BA-20-AQOR | 20 (40 μL) | 200 μL |
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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
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