Gene Symbol | NDUFS4 |
Entrez Gene ID | 4724 |
Full Name | NADH:ubiquinone oxidoreductase subunit S4 |
Synonyms | AQDQ,CI-18,CI-18 kDa,CI-AQDQ |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. |
Disorder MIM: | |
Disorder Html: | Leigh syndrome, 256000 (3); Mitochondrial complex I deficiency, 252010 (3) |