NDUFS8 Chromosome 11
NADH:ubiquinone oxidoreductase core subunit S8
Upload your DNA to see your personal genotypes for variants in NDUFS8.
What This Gene Does
This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"NADH:ubiquinone oxidoreductase core subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000110717
Associated Conditions (6)
Mitochondrial complex I deficiency
nuclear type 2
nuclear type 1
Leigh syndrome
NDUFS8-related disorder
Inborn genetic diseases
Key Variants
RS111033588
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency
Health Risk
RS121912638
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency
Health Risk
RS142658611
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS143337739
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency
Health Risk
RS144125742
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS149201273
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS150278938
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS1804688
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS199793417
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS369961682
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS372004236
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS373128833
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111033588 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |
| RS121912638 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |
| RS142658611 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS143337739 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |
| RS144125742 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS149201273 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS150278938 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS1804688 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS199793417 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS369961682 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS372004236 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS373128833 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS748754134 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS764276946 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS867723941 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 2, Inborn genetic diseases |
| RS1131691492 | Health Risk | Likely pathogenic | — |
| RS1267270290 | Health Risk | Likely pathogenic | — |
| RS1267554976 | Health Risk | Likely pathogenic | Leigh syndrome, Leigh syndrome |
| RS2495580894 | Health Risk | Likely pathogenic | — |
| RS2495581254 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |
| RS2495581454 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |
| RS28939679 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 2, Leigh syndrome |
| RS370053943 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |
| RS750075208 | Health Risk | Likely pathogenic | — |
| RS775708906 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |
| RS863224115 | Health Risk | Likely pathogenic | — |
| RS121912639 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |
| RS397514617 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |
| RS397514618 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |
| RS758247003 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 2, Mitochondrial complex I deficiency |