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 required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| BBS5-20-RE | 20 (40 μL) | 200 μL |  |
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| BBS5-20-OR | 20 (40 μL) | 200 μL |  |
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| BBS5-20-GO | 20 (40 μL) | 200 μL |  |
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| BBS5-20-GR | 20 (40 μL) | 200 μL |  |
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| BBS5-20-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 required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
Gene Symbol : BBS5
Gene Name : Bardet-Biedl syndrome 5
Chromosome : CHR 2: 169,479,495-169,506,654
Locus : 2q31.1
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