NDUFV1 Chromosome 11
NADH:ubiquinone oxidoreductase core subunit V1
Upload your DNA to see your personal genotypes for variants in NDUFV1.
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 |
|---|---|---|---|
| RS2495726355 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS2495726667 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS763530690 | Health Risk | Likely pathogenic | — |
| RS767602961 | Health Risk | Likely pathogenic | — |
| RS774471485 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS863224116 | Health Risk | Likely pathogenic | — |
| RS921833941 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS121913661 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Leigh syndrome |
| RS1229474296 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1410070375 | Health Risk | Pathogenic | — |
| RS1416843620 | Health Risk | Pathogenic | — |
| RS1591109810 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS1854876433 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS2134085151 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS2495715777 | Health Risk | Pathogenic | — |
| RS2495715811 | Health Risk | Pathogenic | — |
| RS2495717980 | Health Risk | Pathogenic | — |
| RS2495718275 | Health Risk | Pathogenic | — |
| RS2495718428 | Health Risk | Pathogenic | — |
| RS2495718539 | Health Risk | Pathogenic | — |
| RS2495721189 | Health Risk | Pathogenic | — |
| RS2495723625 | Health Risk | Pathogenic | — |
| RS2495723842 | Health Risk | Pathogenic | — |
| RS536758576 | Health Risk | Pathogenic | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 4 |
| RS746745725 | Health Risk | Pathogenic | — |
| RS761259319 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS763976244 | Health Risk | Pathogenic | — |
| RS764629375 | Health Risk | Pathogenic | — |
| RS768050261 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Leigh syndrome |
| RS863224118 | Health Risk | Pathogenic | — |
| RS863224119 | Health Risk | Pathogenic | — |
| RS863224120 | Health Risk | Pathogenic | — |
| RS121913659 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, nuclear type 1 |
| RS121913660 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Leigh syndrome |
| RS1424452972 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS150966634 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, nuclear type 4 |
| RS199683937 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, nuclear type 1 |
| RS200865872 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex I deficiency |
| RS2495716193 | Health Risk | Pathogenic/Likely pathogenic | NDUFV1-related disorder, NDUFV1-related disorder |
| RS750767033 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS750831299 | Health Risk | Pathogenic/Likely pathogenic | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 4 |
| RS761756462 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 4, Mitochondrial complex V (ATP synthase) deficiency |
| RS766830864 | Health Risk | Pathogenic/Likely pathogenic | Leigh syndrome, Leigh syndrome |