This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| TTC8-20-RE | 20 (40 μL) | 200 μL |  |
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| TTC8-20-OR | 20 (40 μL) | 200 μL |  |
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| TTC8-20-GO | 20 (40 μL) | 200 μL |  |
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| TTC8-20-GR | 20 (40 μL) | 200 μL |  |
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| TTC8-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Symbol : TTC8
Gene Name : Tetratricopeptide repeat domain 8
Chromosome : CHR 14: 888,241,52-888,779,95
Locus : 14q31.3
Alt. Genes : FEM1B
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