NDUFAF1 Chromosome 15
NADH:ubiquinone oxidoreductase complex assembly factor 1
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What This Gene Does
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) 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. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|Mitochondrial complex I assembly complex"
Locus Type
gene with protein product
Location
15q15.1
Ensembl
ENSG00000137806
Associated Conditions (4)
Mitochondrial complex I deficiency
nuclear type 1
NDUFAF1-related disorder
nuclear type 11
Key Variants
RS145122315
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, NDUFAF1-related disorder
Health Risk
RS150539399
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, NDUFAF1-related disorder
Health Risk
RS180730324
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS200472799
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS387906958
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 11, Mitochondrial complex I deficiency
Health Risk
RS576430165
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS746082814
Conflicting classifications of pathogenicity
Health Risk
RS780200320
Conflicting classifications of pathogenicity
Health Risk
RS780401493
Likely pathogenic
Health Risk
RS1064793767
Pathogenic
Health Risk
RS387906956
Pathogenic
Mitochondrial complex I deficiency, nuclear type 11, Mitochondrial complex I deficiency
Health Risk
RS863224089
Pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145122315 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, NDUFAF1-related disorder |
| RS150539399 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, NDUFAF1-related disorder |
| RS180730324 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS200472799 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS387906958 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 11, Mitochondrial complex I deficiency |
| RS576430165 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS746082814 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780200320 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780401493 | Health Risk | Likely pathogenic | — |
| RS1064793767 | Health Risk | Pathogenic | — |
| RS387906956 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 11, Mitochondrial complex I deficiency |
| RS863224089 | Health Risk | Pathogenic | — |