| Gene Symbol | NDUFA12 |
| Entrez Gene ID | 55967 |
| Full Name | NADH:ubiquinone oxidoreductase subunit A12 |
| Synonyms | B17.2,DAP13 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]. |
| Disorder MIM: | |
| Disorder Html: | Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) |







































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