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NDUFAF6 - NADH:ubiquinone oxidoreductase complex assembly factor 6
- Synonym(s) : MGC40214
- Previous symbols and names : C8ORF38, Chromosome 8 open reading frame 38, NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
- Type : gene with protein product
- Chromosomal location : 8q22.1
- OMIM: 612392
- HGNC: 28625
- UniProtKB: Q330K2
- Genatlas: NDUFAF6
- Ensembl: ENSG00000156170
- IUPHAR-DB: -
- Reactome: Q330K2
- LOVD: NDUFAF6
Diseases list
- Disease-causing germline mutation(s) in Leigh syndrome with leukodystrophy
ORPHA:255241 
- Disease-causing germline mutation(s) in Primary Fanconi renotubular syndrome
ORPHA:3337
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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