NDUFA10 Chromosome 2
NADH:ubiquinone oxidoreductase subunit A10
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What This Gene Does
The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
"NADH:ubiquinone oxidoreductase supernumerary subunits|Flavoproteins"
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000130414
Associated Conditions (7)
Mitochondrial complex I deficiency
nuclear type 1
Leigh syndrome
NDUFA10-related disorder
nuclear type 22
Inborn genetic diseases
See cases
Key Variants
RS112660586
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS116254382
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS118106981
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS140776586
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS147876332
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS148656779
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS149783296
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS192964209
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS199648872
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS369243993
Conflicting classifications of pathogenicity
Health Risk
RS374065697
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS374970309
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112660586 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS116254382 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS118106981 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS140776586 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS147876332 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS148656779 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS149783296 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS192964209 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS199648872 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS369243993 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374065697 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS374970309 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS535714073 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS557106858 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS6736791 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS746019378 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 22, Leigh syndrome |
| RS749199433 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS761149153 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764415074 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765775292 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 22 |
| RS776939095 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778173280 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS863224083 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS917371150 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS928084265 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS1230530438 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 22, Mitochondrial complex I deficiency |
| RS1553573286 | Health Risk | Likely pathogenic | — |
| RS387906872 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 22, Mitochondrial complex I deficiency |
| RS771444488 | Health Risk | Likely pathogenic | — |
| RS1057519414 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 22, Mitochondrial complex I deficiency |
| RS1057519415 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 22, Mitochondrial complex I deficiency |
| RS387906873 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 22, Mitochondrial complex I deficiency |