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Reviewed January 2014
What is the official name of the IDH1 gene?
The official name of this gene is “isocitrate dehydrogenase 1 (NADP+).”
IDH1 is the gene's official symbol. The IDH1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the IDH1 gene?
The 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.
How are changes in the IDH1 gene related to health conditions?
Genetics Home Reference provides information about primary myelofibrosis, which is also associated with changes in the IDH1 gene.
Where is the IDH1 gene located?
Cytogenetic Location: 2q33.3
Molecular Location on chromosome 2: base pairs 208,236,227 to 208,255,143
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The IDH1 gene is located on the long (q) arm of chromosome 2 at position 33.3.
More precisely, the IDH1 gene is located from base pair 208,236,227 to base pair 208,255,143 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about IDH1?
You and your healthcare professional may find the following resources about IDH1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the IDH1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding IDH1?
acute ; acute myeloid leukemia ; amino acid ; AML ; arginine ; breakdown ; cancer ; cell ; compound ; cytoplasm ; dehydrogenase ; enzyme ; gene ; inherited ; leukemia ; molecule ; mutation ; myeloid ; oxygen ; peroxisomes ; protein ; reactive oxygen species ; soluble ; syndrome ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.