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Our customer service representatives are available 24 hours, Monday through Friday to assist you.Reactivity | Human Mouse Rat |
Tested applications | WB IP |
Recommended Dilution | WB 1:200 - 1:1000 IP 1:20 - 1:50 |
Calculated MW | 62kDa |
Observed MW | Refer to figures |
Immunogen | A synthetic Peptide of human TTC8 |
Storage Buffer | Store at 4℃. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Concentration | d |
Synonym | BBS8; RP51; |
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.
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