NDUFV2 Chromosome 18
NADH:ubiquinone oxidoreductase core subunit V2
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What This Gene Does
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase core subunits
Locus Type
gene with protein product
Location
18p11.22
Ensembl
ENSG00000178127
Associated Conditions (5)
Mitochondrial complex I deficiency
nuclear type 1
Uterine corpus endometrial carcinoma
nuclear type 7
Inborn genetic diseases
Key Variants
RS138472116
Conflicting classifications of pathogenicity
Health Risk
RS139650842
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS143576401
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS201074358
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS369562850
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Uterine corpus endometrial carcinoma
Health Risk
RS538112556
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS547252886
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS559485096
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, nuclear type 7
Health Risk
RS772188600
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 7, Mitochondrial complex I deficiency
Health Risk
RS2510151392
Likely pathogenic
Health Risk
RS371040282
Likely pathogenic
Health Risk
RS1431507497
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138472116 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139650842 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS143576401 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS201074358 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS369562850 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Uterine corpus endometrial carcinoma |
| RS538112556 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS547252886 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS559485096 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, nuclear type 7 |
| RS772188600 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 7, Mitochondrial complex I deficiency |
| RS2510151392 | Health Risk | Likely pathogenic | — |
| RS371040282 | Health Risk | Likely pathogenic | — |
| RS1431507497 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2144742205 | Health Risk | Pathogenic | — |
| RS2510155571 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2510155602 | Health Risk | Pathogenic | — |
| RS750082630 | Health Risk | Pathogenic | — |
| RS752670374 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 7, Mitochondrial complex I deficiency |
| RS756653973 | Health Risk | Pathogenic | — |
| RS1428682980 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 7, Mitochondrial complex I deficiency |
| RS754873418 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 7, Mitochondrial complex I deficiency |