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NDUFA2 - NADH:ubiquinone oxidoreductase subunit A2
- Synonym(s) : B8, complex I B8 subunit
- Previous symbols and names : NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8), NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
- Type : gene with protein product
- Chromosomal location : 5q31.3
- OMIM: 602137
- HGNC: 7685
- UniProtKB: O43678
- Genatlas: NDUFA2
- Ensembl: ENSG00000131495
- IUPHAR-DB: -
- Reactome: O43678
- LOVD: NDUFA2
Diseases list
- Disease-causing germline mutation(s) in Leigh syndrome with leukodystrophy
ORPHA:255241 
- Disease-causing germline mutation(s) (loss of function) in Cystic leukoencephalopathy without megalencephaly
ORPHA:85136
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
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