LP420043-4
IDH1 gene & IDH2 gene
Active
Description
IDH1 [HGNC Gene ID: 5382] and IDH2 [HGNC Gene ID:5383] genes encode the isocitrate dehydrogenase 1 & 2 enzymes, respectively. The isocitrate dehydrogenase 1 enzyme is primarily found in cytoplasm of cells as well as in peroxisomes. The isocitrate dehydrogenase 2 enzyme is primarily found in mitochondria and involved in intermediary metabolism and energy production. Mutations in the IDH1 & IDH2 genes 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 enzymes take on a new, abnormal function.[MedlinePlus Gene:IDH1][MedlinePlus Gene:IDH2] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- IDH1 gene & IDH2 gene
- Part Display Name
- IDH1 and IDH2 genes
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-08-11
- Construct for LOINC Short Name
- IDH1 + IDH2
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=LP420043-4
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | IDH1, gene & IDH2, gene Synonyms: Geni IDH1 e IDH2 |
| es-ES | Spanish (Spain) | Genes IDH1 e IDH2 |
| zh-CN | Chinese (China) | IDH1 基因 & IDH2 基因 Synonyms: 异柠檬酸脱氢酶 1 与异柠檬酸脱氢酶 2; |
| nl-NL | Dutch (Netherlands) | IDH1-gen & IDH2-gen |
| el-GR | Greek (Greece) | Γονίδιο IDH1 & γονίδιο IDH2 Synonyms: Γονίδιο IDH1 & γονίδιο IDH2 |
LOINC Copyright
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