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Email: info@nsjbio.com
- Tel: 858.663.9055
- Email: info@nsjbio.com
The gene represented in this entry is involved in disease pathogenesis. Mutations affecting Arg-132 are tissue-specific, and suggest that this residue plays a unique role in the development of high-grade gliomas. Mutations of Arg-132 to Cys, His, Leu or Ser abolish magnesium binding and abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. Elevated levels of R(-)-2-hydroxyglutarate are correlated with an elevated risk of malignant brain tumors. Genetic variations are associated with cartilaginous tumors such as enchondroma or chondrosarcoma. Mutations of Arg-132 to Cys, Gly or His abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate.
Optimal dilution of the IDH1-R132G antibody should be determined by the researcher.
A recombinant partial protein from human IDH1 protein with the R132G mutation was used as the immunogen for the IDH1-R132G antibody.
Aliquot the IDH1-R132G antibody and store frozen at -20oC or colder. Avoid repeated freeze-thaw cycles.
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