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NDUFS1 - NADH:ubiquinone oxidoreductase core subunit S1
- Synonym(s) : CI-75k, complex I 75kDa subunit, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
- Previous symbols and names : NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase), NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
- Type : gene with protein product
- Chromosomal location : 2q33.3
- OMIM: 157655
- HGNC: 7707
- UniProtKB: P28331
- Genatlas: NDUFS1
- GenCC: NDUFS1
- Ensembl: ENSG00000023228
- IUPHAR-DB: -
- Reactome: P28331
- LOVD: NDUFS1
Diseases list
- Disease-causing germline mutation(s) in Isolated complex I deficiency
ORPHA:2609 
- Disease-causing germline mutation(s) in Leigh syndrome with leukodystrophy
ORPHA:255241
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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