101965-2
NDUFAF5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP435231-8 NDUFAF5 gene targeted mutation
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,
Fully-Specified Name
- Component
- NDUFAF5 gene targeted mutation
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- NDUFAF5 Mut Anl Bld/T
- Display Name
- NDUFAF5 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- NDUFAF5 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.75
- Last Updated
- Version 2.75
- Order vs. Observation
- Both
Formula (Readable)
N/A
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Análisis de mutación dirigida al gen NDUFAF5: |
fr-FR | French (France) | NDUFAF5 gène mutation cible trouvée: |
it-IT | Italian (Italy) | Gene NDUFAF5, mutazione mirata: Synonyms: Analisi di mutazione mirata del gene NDUFAF5 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | NDUFAF5-gen doelgerichte mutatie-analyse: Synonyms: molgen |
zh-CN | Chinese (China) | NDUFAF5 基因靶向突变: Synonyms: 临床文档型; |
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