LP435231-8
NDUFAF5 gene targeted mutation
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Description
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Source: 3M Health Information Systems,
Basic Part Properties
- Part Display Name
- NDUFAF5 gene targeted mutation analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2023-04-24
- Construct for LOINC Short Name
- NDUFAF5 Mut Anl
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=LP435231-8
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | NDUFAF5-gen doelgerichte mutatie-analyse |
| es-ES | Spanish (Spain) | Análisis de mutación dirigida al gen NDUFAF5 |
| zh-CN | Chinese (China) | NDUFAF5 基因靶向突变 |
| it-IT | Italian (Italy) | Gene NDUFAF5, mutazione mirata Synonyms: Analisi di mutazione mirata del gene NDUFAF5 |
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