IDH1

Involvement in disease

Glioma

GLM

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

None

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.

Post-translational modifications

Acetylation at Lys-374 dramatically reduces catalytic activity.

Sequence similarities

Belongs to the isocitrate and isopropylmalate dehydrogenases family.

Cellular localization

• Cytoplasm
• Cytosol
• Peroxisome

Alternative names

• Isocitrate dehydrogenase [NADP] cytoplasmic
• IDH
• Cytosolic NADP-isocitrate dehydrogenase
• IDP
• NADP(+)-specific ICDH
• Oxalosuccinate decarboxylase
• PICD
• IDH1

Database links

• entrezGene:3417
• omim:147700
• swissprot:O75874

Target type

Proteins

Primary research area

Oncology

Other research areas

• Epigenetics
• Immuno-oncology
• Immunology & Infectious Disease

Molecular weight

46659Da