NDUFS1 Chromosome 2
NADH:ubiquinone oxidoreductase core subunit S1
Upload your DNA to see your personal genotypes for variants in NDUFS1.
What This Gene Does
The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase core subunits
Locus Type
gene with protein product
Location
2q33.3
Ensembl
ENSG00000023228
Associated Conditions (30)
Mitochondrial complex I deficiency
nuclear type 1
Leigh syndrome
See cases
nuclear type 5
Inborn genetic diseases
NDUFS1-related disorder
Gastric cancer
Uterine carcinosarcoma
Lung cancer
Thyroid cancer
nonmedullary
1
Melanoma
Acute myeloid leukemia
Hepatocellular carcinoma
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Thymoma
Nonpapillary renal cell carcinoma
+10 more conditions
Key Variants
RS112026097
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS114402169
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS116137442
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS137889316
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS138818421
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS140126185
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 5, Mitochondrial complex I deficiency
Health Risk
RS145023130
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS147685849
Conflicting classifications of pathogenicity
Health Risk
RS148544177
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS148726142
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS149271416
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 5, NDUFS1-related disorder
Health Risk
RS150214409
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
All Variants (74)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS863224097 | Health Risk | Likely pathogenic | — |
| RS863224099 | Health Risk | Likely pathogenic | — |
| RS863224100 | Health Risk | Likely pathogenic | — |
| RS863224101 | Health Risk | Likely pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS863224103 | Health Risk | Likely pathogenic | — |
| RS1179324500 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 5, Mitochondrial complex I deficiency |
| RS1553503177 | Health Risk | Pathogenic | — |
| RS1553506655 | Health Risk | Pathogenic | — |
| RS186057450 | Health Risk | Pathogenic | — |
| RS199422224 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 5, Mitochondrial complex I deficiency |
| RS2105968169 | Health Risk | Pathogenic | — |
| RS2105973807 | Health Risk | Pathogenic | — |
| RS2470007807 | Health Risk | Pathogenic | — |
| RS372691318 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 5, Mitochondrial complex I deficiency |
| RS397515383 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 5, Mitochondrial complex I deficiency |
| RS397515447 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 5, Mitochondrial complex I deficiency |
| RS750971390 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 1, nuclear type 5 |
| RS762369653 | Health Risk | Pathogenic | — |
| RS769456978 | Health Risk | Pathogenic | — |
| RS1484648743 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 5, Mitochondrial complex I deficiency |
| RS2470067092 | Health Risk | Pathogenic/Likely pathogenic | NDUFS1-related disorder, Inborn genetic diseases, NDUFS1-related disorder |
| RS370009373 | Health Risk | Pathogenic/Likely pathogenic | See cases, Mitochondrial complex I deficiency, nuclear type 5 |
| RS370411488 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 5, Mitochondrial complex I deficiency |
| RS750285313 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 5, Mitochondrial complex I deficiency |