NDUFAF6 Chromosome 8
NADH:ubiquinone oxidoreductase complex assembly factor 6
Upload your DNA to see your personal genotypes for variants in NDUFAF6.
What This Gene Does
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8q22.1
Ensembl
ENSG00000156170
Associated Conditions (10)
Mitochondrial complex I deficiency
nuclear type 17
Inborn genetic diseases
Mitochondrial disease
See cases
Leigh syndrome
NDUFAF6-related disorder
Fanconi renotubular syndrome 5
Developmental regression
Familial prostate cancer
Key Variants
RS1193998170
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency
Health Risk
RS1392002240
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554669910
Conflicting classifications of pathogenicity
Mitochondrial disease, Mitochondrial disease
Health Risk
RS201088736
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 17, See cases
Health Risk
RS201732170
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 17, Leigh syndrome
Health Risk
RS202047755
Conflicting classifications of pathogenicity
NDUFAF6-related disorder, NDUFAF6-related disorder
Health Risk
RS532058076
Conflicting classifications of pathogenicity
Health Risk
RS570923866
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS575462405
Conflicting classifications of pathogenicity
Fanconi renotubular syndrome 5, Mitochondrial disease, Fanconi renotubular syndrome 5
Health Risk
RS576681448
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS758619898
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS779349059
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial disease
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1193998170 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS1392002240 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1554669910 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial disease, Mitochondrial disease |
| RS201088736 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 17, See cases |
| RS201732170 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 17, Leigh syndrome |
| RS202047755 | Health Risk | Conflicting classifications of pathogenicity | NDUFAF6-related disorder, NDUFAF6-related disorder |
| RS532058076 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS570923866 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS575462405 | Health Risk | Conflicting classifications of pathogenicity | Fanconi renotubular syndrome 5, Mitochondrial disease, Fanconi renotubular syndrome 5 |
| RS576681448 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758619898 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779349059 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial disease |
| RS863223932 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS897112748 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1224421127 | Health Risk | Likely pathogenic | Developmental regression, Developmental regression |
| RS1463009913 | Health Risk | Likely pathogenic | — |
| RS1829405389 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS1830643251 | Health Risk | Likely pathogenic | — |
| RS2536707460 | Health Risk | Likely pathogenic | — |
| RS552141388 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS758181982 | Health Risk | Likely pathogenic | — |
| RS762620949 | Health Risk | Likely pathogenic | Leigh syndrome, Leigh syndrome |
| RS777821109 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 17, Fanconi renotubular syndrome 5 |
| RS863223931 | Health Risk | Likely pathogenic | — |
| RS1057519084 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS1057519085 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS1179490149 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS1284681229 | Health Risk | Pathogenic | — |
| RS137853184 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS1829405956 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS2536706772 | Health Risk | Pathogenic | — |
| RS2536836598 | Health Risk | Pathogenic | — |
| RS765915512 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS768273248 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS773650139 | Health Risk | Pathogenic | — |
| RS868345341 | Health Risk | Pathogenic | — |
| RS1085307635 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS749738738 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 17, Mitochondrial complex I deficiency |
| RS753873681 | Health Risk | Pathogenic/Likely pathogenic | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 17 |
| RS756507716 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS762093523 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 17 |