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Reactivity | Human Mouse |
Tested applications | WB |
Recommended Dilution | WB 1:500 - 1:2000 |
Calculated MW | 137kDa |
Observed MW | Refer to figures |
Immunogen | A synthetic Peptide of human AHI1 |
Storage Buffer | Store at 4℃. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
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