NDUFS6 Chromosome 5
NADH:ubiquinone oxidoreductase subunit S6
Upload your DNA to see your personal genotypes for variants in NDUFS6.
What This Gene Does
This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase supernumerary subunits
Locus Type
gene with protein product
Location
5p15.33
Ensembl
ENSG00000145494
Associated Conditions (5)
Mitochondrial complex I deficiency
nuclear type 1
nuclear type 9
Inborn genetic diseases
Cervical cancer
Key Variants
RS140887831
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS145407020
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS145747389
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, nuclear type 9
Health Risk
RS200445799
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS374411074
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 9, Inborn genetic diseases
Health Risk
RS376509886
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS745565855
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS747442701
Conflicting classifications of pathogenicity
Health Risk
RS754448417
Conflicting classifications of pathogenicity
Health Risk
RS755222875
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS863224110
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency
Health Risk
RS886060511
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140887831 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS145407020 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS145747389 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, nuclear type 9 |
| RS200445799 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS374411074 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 9, Inborn genetic diseases |
| RS376509886 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS745565855 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS747442701 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754448417 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755222875 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS863224110 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS886060511 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS886060512 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS1182595182 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS1458174396 | Health Risk | Likely pathogenic | — |
| RS1561102612 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS1579936916 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS1734061080 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS2111362314 | Health Risk | Likely pathogenic | — |
| RS2111364865 | Health Risk | Likely pathogenic | — |
| RS2477240276 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS2477240280 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS2477240345 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS2477243665 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS267606913 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS773292120 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS863224111 | Health Risk | Likely pathogenic | — |
| RS1208154701 | Health Risk | Pathogenic | — |
| RS1561102614 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS1734300591 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS2111364901 | Health Risk | Pathogenic | — |
| RS2477213486 | Health Risk | Pathogenic | — |
| RS2477240519 | Health Risk | Pathogenic | — |
| RS2477243678 | Health Risk | Pathogenic | — |
| RS770339741 | Health Risk | Pathogenic | — |
| RS773818474 | Health Risk | Pathogenic | — |
| RS112210581 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS1169689300 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS1561101881 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2477240409 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |
| RS759473851 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 9 |
| RS763535523 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Cervical cancer |
| RS769666581 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 9, Mitochondrial complex I deficiency |