NDUFAF2 Chromosome 5
NADH:ubiquinone oxidoreductase complex assembly factor 2
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What This Gene Does
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
5q12.1
Ensembl
ENSG00000164182
Associated Conditions (5)
Mitochondrial complex I deficiency
nuclear type 10
nuclear type 1
Leigh syndrome
Inborn genetic diseases
Key Variants
RS1750415294
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 10, Mitochondrial complex I deficiency
Health Risk
RS376747316
Conflicting classifications of pathogenicity
Health Risk
RS537327206
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS550008432
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS749677218
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS753215899
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS753595274
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS761787794
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS769579395
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS770172045
Conflicting classifications of pathogenicity
Leigh syndrome, Inborn genetic diseases, Mitochondrial complex I deficiency
Health Risk
RS775605330
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS779872068
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1750415294 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 10, Mitochondrial complex I deficiency |
| RS376747316 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS537327206 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS550008432 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS749677218 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS753215899 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753595274 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761787794 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769579395 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS770172045 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Inborn genetic diseases, Mitochondrial complex I deficiency |
| RS775605330 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS779872068 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS9885480 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS1554076318 | Health Risk | Likely pathogenic | — |
| RS2531892073 | Health Risk | Likely pathogenic | Leigh syndrome, Leigh syndrome |
| RS2532030559 | Health Risk | Likely pathogenic | — |
| RS1554076309 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 10, Mitochondrial complex I deficiency |
| RS1554076324 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 10, Mitochondrial complex I deficiency |
| RS1561557254 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 10, Mitochondrial complex I deficiency |
| RS1752321639 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1752323416 | Health Risk | Pathogenic | — |
| RS2532030623 | Health Risk | Pathogenic | — |
| RS2532030738 | Health Risk | Pathogenic | — |
| RS760647945 | Health Risk | Pathogenic | — |
| RS137852863 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 10, nuclear type 1 |
| RS1554076306 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 10, Mitochondrial complex I deficiency |
| RS2531892396 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 10, Mitochondrial complex I deficiency |
| RS772294726 | Health Risk | Pathogenic/Likely pathogenic | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 10 |