This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two transcript variants; however, the second variant has not yet been fully described.
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Protein Aliases: Cytosolic NADP-isocitrate dehydrogenase; epididymis luminal protein 216; epididymis secretory protein Li 26; IDCD; IDH; IDP; IDPC; isocitrate dehydrogenase 1 (NADP+); isocitrate dehydrogenase 1 (NADP+), soluble; Isocitrate dehydrogenase [NADP] cytoplasmic; NADP(+) specific ICDH; NADP(+)-specific ICDH; NADP-dependent isocitrate dehydrogenase, cytosolic; NADP-dependent isocitrate dehydrogenase, peroxisomal; Oxalosuccinate decarboxylase
Gene Aliases: HEL-216; HEL-S-26; IDCD; IDH; IDH1; IDP; IDPC; PICD
UniProt ID: (Human) O75874
Entrez Gene ID: (Human) 3417