NDUFB8 Chromosome 10
NADH:ubiquinone oxidoreductase subunit B8
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What This Gene Does
Predicted to enable NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase supernumerary subunits
Locus Type
gene with protein product
Location
10q24.31
Ensembl
ENSG00000166136
Associated Conditions (3)
Inborn genetic diseases
Mitochondrial complex I deficiency
nuclear type 32
Key Variants
RS201988389
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2133710956
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 32, Mitochondrial complex I deficiency
Health Risk
RS1239013578
Pathogenic
Mitochondrial complex I deficiency, nuclear type 32, Mitochondrial complex I deficiency
Health Risk
RS1554843251
Pathogenic
Mitochondrial complex I deficiency, nuclear type 32, Mitochondrial complex I deficiency
Health Risk
RS1554843434
Pathogenic
Mitochondrial complex I deficiency, nuclear type 32, Mitochondrial complex I deficiency
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201988389 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2133710956 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 32, Mitochondrial complex I deficiency |
| RS1239013578 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 32, Mitochondrial complex I deficiency |
| RS1554843251 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 32, Mitochondrial complex I deficiency |
| RS1554843434 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 32, Mitochondrial complex I deficiency |