Gene Symbol | NDUFAF4 |
Entrez Gene ID | 29078 |
Full Name | NADH:ubiquinone oxidoreductase complex assembly factor 4 |
Synonyms | C6orf66,HRPAP20,HSPC125,My013,bA22L21.1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex I deficiency, 252010 (3) |