NDUFA9 Chromosome 12
NADH:ubiquinone oxidoreductase subunit A9
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What This Gene Does
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]
Gene Info
Gene Group
"Short chain dehydrogenase/reductase superfamily|NADH:ubiquinone oxidoreductase supernumerary subunits|Flavoproteins"
Locus Type
gene with protein product
Location
12p13.3
Ensembl
ENSG00000139180
Associated Conditions (9)
Colon adenocarcinoma
Clear cell carcinoma of kidney
Adrenocortical carcinoma
hereditary
Mitochondrial complex I deficiency
nuclear type 26
NDUFA9-related disorder
Cervical cancer
Inborn genetic diseases
Key Variants
RS139012735
Conflicting classifications of pathogenicity
Colon adenocarcinoma, Clear cell carcinoma of kidney, Adrenocortical carcinoma
Health Risk
RS139674448
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 26, NDUFA9-related disorder
Health Risk
RS200750609
Conflicting classifications of pathogenicity
NDUFA9-related disorder, Cervical cancer, Colon adenocarcinoma
Health Risk
RS202214518
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 26, Inborn genetic diseases
Health Risk
RS3210083
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency
Health Risk
RS35263902
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency
Health Risk
RS758574474
Conflicting classifications of pathogenicity
Health Risk
RS761201299
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS764064779
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency
Health Risk
RS768333416
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency
Health Risk
RS780895352
Conflicting classifications of pathogenicity
Health Risk
RS1945978807
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139012735 | Health Risk | Conflicting classifications of pathogenicity | Colon adenocarcinoma, Clear cell carcinoma of kidney, Adrenocortical carcinoma |
| RS139674448 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 26, NDUFA9-related disorder |
| RS200750609 | Health Risk | Conflicting classifications of pathogenicity | NDUFA9-related disorder, Cervical cancer, Colon adenocarcinoma |
| RS202214518 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 26, Inborn genetic diseases |
| RS3210083 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency |
| RS35263902 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency |
| RS758574474 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761201299 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764064779 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency |
| RS768333416 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency |
| RS780895352 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1945978807 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency |
| RS2498069574 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency |
| RS199592341 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 26, Mitochondrial complex I deficiency |
| RS760993624 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |