LP432139-6
IDH2 gene exon 4
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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 Display Name
- IDH2 gene exon 4
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2022-02-22
- Construct for LOINC Short Name
- IDH2 exon 4
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP432139-6
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Exón 4 del gen IDH2 |
| zh-CN | Chinese (China) | IDH2 基因外显子 4 |
| it-IT | Italian (Italy) | IDH2, esone 4 gene Synonyms: Gene IDH2 esone 4 |
| nl-NL | Dutch (Netherlands) | IDH2-gen exon 4 |
LOINC Copyright
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