NDUFS4 Chromosome 5
NADH:ubiquinone oxidoreductase subunit S4
Upload your DNA to see your personal genotypes for variants in NDUFS4.
What This Gene Does
This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase supernumerary subunits
Locus Type
gene with protein product
Location
5q11.2
Ensembl
ENSG00000164258
Associated Conditions (10)
Mitochondrial complex I deficiency
nuclear type 1
Leigh syndrome
NDUFS4-related disorder
Inborn genetic diseases
Colon adenocarcinoma
Developmental regression
Mitochondrial disease
Cervical cancer
See cases
Key Variants
RS138941073
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS142368721
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS145347909
Conflicting classifications of pathogenicity
Leigh syndrome, NDUFS4-related disorder, Leigh syndrome
Health Risk
RS149323691
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS185711494
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS200384843
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS368876333
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS73754255
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS760391381
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1260453815
Likely pathogenic
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS1393523308
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS1554060168
Likely pathogenic
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138941073 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS142368721 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS145347909 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, NDUFS4-related disorder, Leigh syndrome |
| RS149323691 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS185711494 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS200384843 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS368876333 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS73754255 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS760391381 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1260453815 | Health Risk | Likely pathogenic | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS1393523308 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS1554060168 | Health Risk | Likely pathogenic | — |
| RS1740730588 | Health Risk | Likely pathogenic | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS2478682508 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2478682624 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2478786990 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2478787227 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2478787439 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2478815237 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2478815267 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2478815275 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2478878722 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2478878843 | Health Risk | Likely pathogenic | Leigh syndrome, Leigh syndrome |
| RS766516611 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS769292531 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS989180511 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS104893898 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS104893899 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS121908985 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS1437912745 | Health Risk | Pathogenic | — |
| RS1490999340 | Health Risk | Pathogenic | — |
| RS1554059248 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1554062427 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1751865973 | Health Risk | Pathogenic | Developmental regression, Mitochondrial complex I deficiency, nuclear type 1 |
| RS2478786719 | Health Risk | Pathogenic | — |
| RS2478786848 | Health Risk | Pathogenic | — |
| RS2478787110 | Health Risk | Pathogenic | — |
| RS2478787355 | Health Risk | Pathogenic | — |
| RS2478815137 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS376281345 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS587776949 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS1445075330 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS2478786907 | Health Risk | Pathogenic/Likely pathogenic | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS747359752 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, Leigh syndrome, nuclear type 1 |
| RS767393290 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 1 |
| RS769106495 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |