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) |