NDUFB3 Chromosome 2
NADH:ubiquinone oxidoreductase subunit B3
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What This Gene Does
This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase supernumerary subunits
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000119013
Associated Conditions (3)
Mitochondrial complex I deficiency
nuclear type 25
Inborn genetic diseases
Key Variants
RS144513268
Conflicting classifications of pathogenicity
Health Risk
RS200800978
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 25, Inborn genetic diseases
Health Risk
RS2125534701
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 25, Mitochondrial complex I deficiency
Health Risk
RS747403932
Likely pathogenic
Health Risk
RS1553535063
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2125534778
Pathogenic
Mitochondrial complex I deficiency, nuclear type 25, Mitochondrial complex I deficiency
Health Risk
RS142609245
Pathogenic/Likely pathogenic
Mitochondrial complex I deficiency, Inborn genetic diseases, nuclear type 25
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144513268 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200800978 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 25, Inborn genetic diseases |
| RS2125534701 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 25, Mitochondrial complex I deficiency |
| RS747403932 | Health Risk | Likely pathogenic | — |
| RS1553535063 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2125534778 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 25, Mitochondrial complex I deficiency |
| RS142609245 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, Inborn genetic diseases, nuclear type 25 |