| Gene Symbol | NDUFAF3 |
| Entrez Gene ID | 25915 |
| Full Name | NADH:ubiquinone oxidoreductase complex assembly factor 3 |
| Synonyms | 2P1,C3orf60,E3-3 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]. |
| Disorder MIM: | |
| Disorder Html: | Mitochondrial complex I deficiency, 252010 (3) |









































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