isocitrate dehydrogenase (NADP(+)) 1
Última actualización 11 Abr 2023
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El IDH1 gene provides instructions for making an enzyme called isocitrate dehydrogenase 1. This enzyme is primarily found in the fluid-filled space inside cells (the cytoplasm). It is also found in cellular structures called peroxisomes, which are small sacs within cells that process many types of molecules. In both the cytoplasm and in peroxisomes, isocitrate dehydrogenase 1 converts a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. The NADPH produced from isocitrate dehydrogenase 1 is involved in the breakdown of fats for energy, and it also protects cells from potentially harmful molecules called reactive oxygen species.
Normal function
El IDH1 gene provides instructions for making an enzyme called isocitrate dehydrogenase 1. This enzyme is primarily found in the fluid-filled space inside cells (the cytoplasm). It is also found in cellular structures called peroxisomes, which are small sacs within cells that process many types of molecules. In both the cytoplasm and in peroxisomes, isocitrate dehydrogenase 1 converts a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. The NADPH produced from isocitrate dehydrogenase 1 is involved in the breakdown of fats for energy, and it also protects cells from potentially harmful molecules called reactive oxygen species.
Conditions referring to this gene or chromosome
Otros nombres
IDCD
IDH
IDHC_HUMAN
IDP
IDPC
isocitrate dehydrogenase 1 (NADP+)
isocitrate dehydrogenase 1 (NADP+), soluble
isocitrate dehydrogenase [NADP] cytoplasmic
NADP(+)-specific ICDH
NADP-dependent isocitrate dehydrogenase, cytosolic
NADP-dependent isocitrate dehydrogenase, peroxisomal
oxalosuccinate decarboxylase
PICD
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Lecturas adicionales y referencias
- isocitrate dehydrogenase (NADP(+)) 1; MedlinePlus, National Library of Medicine.
- Amary MF, Bacsi K, Maggiani F, Damato S, Halai D, Berisha F, Pollock R, O'Donnell P, Grigoriadis A, Diss T, Eskandarpour M, Presneau N, Hogendoorn PC, Futreal A, Tirabosco R, Flanagan AM. IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. J Pathol. 2011 Jul;224(3):334-43. doi: 10.1002/path.2913. Epub 2011 May 19.
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- El Abiad JM, Robbins SM, Cohen B, Levin AS, Valle DL, Morris CD, de Macena Sobreira NL. Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. Am J Med Genet A. 2020 May;182(5):1093-1103. doi: 10.1002/ajmg.a.61530. Epub 2020 Mar 7.
- Huergo LF, Dixon R. The Emergence of 2-Oxoglutarate as a Master Regulator Metabolite. Microbiol Mol Biol Rev. 2015 Dec;79(4):419-35. doi: 10.1128/MMBR.00038-15.
- Issa GC, DiNardo CD. Acute myeloid leukemia with IDH1 and IDH2 mutations: 2021 treatment algorithm. Blood Cancer J. 2021 Jun 3;11(6):107. doi: 10.1038/s41408-021-00497-1.
- Losman JA, Looper RE, Koivunen P, Lee S, Schneider RK, McMahon C, Cowley GS, Root DE, Ebert BL, Kaelin WG Jr. (R)-2-hydroxyglutarate is sufficient to promote leukemogenesis and its effects are reversible. Science. 2013 Mar 29;339(6127):1621-5. doi: 10.1126/science.1231677. Epub 2013 Feb 7.
- Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovee JV. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004.
- Patel KP, Ravandi F, Ma D, Paladugu A, Barkoh BA, Medeiros LJ, Luthra R. Acute myeloid leukemia with IDH1 or IDH2 mutation: frequency and clinicopathologic features. Am J Clin Pathol. 2011 Jan;135(1):35-45. doi: 10.1309/AJCPD7NR2RMNQDVF.
- Pirozzi CJ, Yan H. The implications of IDH mutations for cancer development and therapy. Nat Rev Clin Oncol. 2021 Oct;18(10):645-661. doi: 10.1038/s41571-021-00521-0. Epub 2021 Jun 15.
- Reitman ZJ, Yan H. Isocitrate dehydrogenase 1 and 2 mutations in cancer: alterations at a crossroads of cellular metabolism. J Natl Cancer Inst. 2010 Jul 7;102(13):932-41. doi: 10.1093/jnci/djq187. Epub 2010 May 31.
- Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, Coller HA, Cross JR, Fantin VR, Hedvat CV, Perl AE, Rabinowitz JD, Carroll M, Su SM, Sharp KA, Levine RL, Thompson CB. The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell. 2010 Mar 16;17(3):225-34. doi: 10.1016/j.ccr.2010.01.020. Epub 2010 Feb 18.
- Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, Kos I, Batinic-Haberle I, Jones S, Riggins GJ, Friedman H, Friedman A, Reardon D, Herndon J, Kinzler KW, Velculescu VE, Vogelstein B, Bigner DD. IDH1 and IDH2 mutations in gliomas. N Engl J Med. 2009 Feb 19;360(8):765-73. doi: 10.1056/NEJMoa0808710.
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