Description

The IDH2 (isocitrate dehydrogenase 2, mitochondrial) gene [HGNC Gene ID:5383] is located on chromosome 15 at 15q26.1. The IDH2 gene encodes the isocitrate dehydrogenase 2 enzyme found in mitochondria and involved in intermediary metabolism and energy production. Mutations in the IDH2 gene are associated with various conditions, including 2-hydroxyglutaric aciduria, Maffucci syndrome, Ollier disease, cholangiocarcinoma, acute myeloid leukemia, myelofibrosis, and gliomas. 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:IDH2] Source: Regenstrief LOINC

Basic Part Properties

Part Name
IDH2 gene
Part Display Name
IDH2 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2018-01-05
Construct for LOINC Short Name
IDH2 gene

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP265706-4

Language Variants Get Info

TagLanguageTranslation
it-ITItalian (Italy)IDH2, gene
Synonyms: Gene IDH2
es-ESSpanish (Spain)Gen IDH2
zh-CNChinese (China)IDH2 基因
nl-NLDutch (Netherlands)IDH2-gen
fr-FRFrench (France)IDH2 gène
pl-PLPolish (Poland)IDH2 gen
Synonyms: Gen IDH2
el-GRGreek (Greece)Γονίδιο IDH2
Synonyms: Γονίδιο IDH2