NDUFV1 Chromosome 11
NADH:ubiquinone oxidoreductase core subunit V1
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What This Gene Does
The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"NADH:ubiquinone oxidoreductase core subunits|Flavoproteins"
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000167792
Associated Conditions (11)
Leigh syndrome
Mitochondrial complex I deficiency
nuclear type 1
NDUFV1-related disorder
Inborn genetic diseases
nuclear type 4
Gastric cancer
Ovarian serous cystadenocarcinoma
nuclear type
Mitochondrial complex V (ATP synthase) deficiency
nuclear type 5
Key Variants
RS11540012
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS139299777
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS140445386
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS141400889
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS141502688
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS142499054
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS142982022
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS144087607
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS147242476
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 4, Inborn genetic diseases
Health Risk
RS147719815
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS150859374
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS151104852
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11540012 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS139299777 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS140445386 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS141400889 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS141502688 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 1 |
| RS142499054 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS142982022 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS144087607 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS147242476 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 4, Inborn genetic diseases |
| RS147719815 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS150859374 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS151104852 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS184136353 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS1854932368 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS187400726 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS199543483 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS199963966 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS200417926 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS200829846 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS201289242 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201727685 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, NDUFV1-related disorder |
| RS201992354 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, Ovarian serous cystadenocarcinoma |
| RS371426372 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS373383800 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS373940385 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS374581520 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS375897089 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 4, Leigh syndrome |
| RS747407725 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755312472 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 4 |
| RS757486575 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 4, Leigh syndrome |
| RS766555879 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS767679135 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS773832212 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777692271 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS778295360 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, Mitochondrial complex I deficiency |
| RS779150755 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS780851340 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886048589 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS1135402749 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS1222228141 | Health Risk | Likely pathogenic | — |
| RS1290684221 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS1316287327 | Health Risk | Likely pathogenic | Leigh syndrome, Leigh syndrome |
| RS1334366268 | Health Risk | Likely pathogenic | — |
| RS1427605081 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS1565224383 | Health Risk | Likely pathogenic | — |
| RS1591111808 | Health Risk | Likely pathogenic | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 4 |
| RS2134082911 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS2495715163 | Health Risk | Likely pathogenic | — |
| RS2495717946 | Health Risk | Likely pathogenic | — |
| RS2495722896 | Health Risk | Likely pathogenic | NDUFV1-related disorder, NDUFV1-related disorder |