This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| COL11A1-20-RE | 20 (40 μL) | 200 μL |  |
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| COL11A1-20-OR | 20 (40 μL) | 200 μL |  |
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| COL11A1-20-GO | 20 (40 μL) | 200 μL |  |
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| COL11A1-20-GR | 20 (40 μL) | 200 μL |  |
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| COL11A1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Gene Symbol : COL11A1
Gene Name : Collagen type XI alpha 1 chain
Chromosome : CHR 1: 103,108,579-102,876,466
Locus : 1p21.1
Alt. Genes : LRPPRC
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