NDUFAF4 Chromosome 6
NADH:ubiquinone oxidoreductase complex assembly factor 4
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What This Gene Does
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
6q16.1
Ensembl
ENSG00000123545
Associated Conditions (3)
Mitochondrial complex I deficiency
nuclear type 1
nuclear type 15
Key Variants
RS117908219
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, nuclear type 15
Health Risk
RS148667964
Conflicting classifications of pathogenicity
Health Risk
RS1554197721
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 15, Mitochondrial complex I deficiency
Health Risk
RS201754378
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS372832376
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS78567928
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS63751061
Pathogenic
Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117908219 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, nuclear type 15 |
| RS148667964 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1554197721 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 15, Mitochondrial complex I deficiency |
| RS201754378 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS372832376 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS78567928 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS63751061 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, Mitochondrial complex I deficiency |