Search for a gene
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
- Disease-causing germline mutation(s) (loss of function) in Cystic leukoencephalopathy without megalencephaly
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.