This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| COL9A1BA-20-REGO | 20 (40 μL) | 200 μL |
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| COL9A1BA-20-REGR | 20 (40 μL) | 200 μL |
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| COL9A1BA-20-ORGR | 20 (40 μL) | 200 μL |
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| COL9A1BA-20-GOGR | 20 (40 μL) | 200 μL |
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| COL9A1BA-20-GRRE | 20 (40 μL) | 200 μL |
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| COL9A1BA-20-GROR | 20 (40 μL) | 200 μL |
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| COL9A1BA-20-GRGO | 20 (40 μL) | 200 μL |
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| COL9A1BA-20-AQOR | 20 (40 μL) | 200 μL |
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This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Symbol : COL9A1
Gene Name : Collagen type IX alpha 1 chain
Chromosome : CHR 6: 703,030,82-702,160,39
Locus : 6q13
Alt. Genes : CLEC3A
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