NDUFAF8 Chromosome 17
NADH:ubiquinone oxidoreductase complex assembly factor 8
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What This Gene Does
Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial matrix. Implicated in nuclear type mitochondrial complex I deficiency 34. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000224877
Associated Conditions (4)
Mitochondrial disease
Mitochondrial complex I deficiency
nuclear type 34
NDUFAF8-related disorder
Key Variants
RS1598368033
Likely pathogenic
Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 34
Health Risk
RS1318084629
Pathogenic
Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 34
Health Risk
RS1598367619
Pathogenic
Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 34
Health Risk
RS745332456
Pathogenic/Likely pathogenic
Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 34
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1598368033 | Health Risk | Likely pathogenic | Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 34 |
| RS1318084629 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 34 |
| RS1598367619 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 34 |
| RS745332456 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 34 |