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The IDH1 (isocitrate dehydrogenase 1, cytosolic) gene [HGNC Gene ID:5382] is located on chromosome 2 at 2q34. The IDH1 gene encodes the isocitrate dehydrogenase 1 enzyme, which is primarily found in cytoplasm of cells as well as in peroxisomes. Mutations in the IDH1 gene are associated with various conditions, including Maffucci syndrome, Ollier disease, cholangiocarcinoma, acute myeloid leukemia, myelofibrosis, gliomas, and chondrosarcomas. The mutations associated with Maffucci syndrome, Ollier disease, and other cancer-related conditions are somatic gain-of-function mutations in which the enzyme takes on a new, abnormal function.[MedlinePlus Gene:IDH1] Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
IDH1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
Construct for LOINC Short Name
IDH1 gene

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Language Variants Get Info

Tag Language Translation
it-IT Italian (Italy) IDH1, gene
Synonyms: Gene IDH1
es-ES Spanish (Spain) Gen IDH1
zh-CN Chinese (China) IDH1 基因
nl-NL Dutch (Netherlands) IDH1-gen