Gene Symbol | NDUFS8 |
Entrez Gene ID | 4728 |
Full Name | NADH:ubiquinone oxidoreductase core subunit S8 |
Synonyms | CI-23k,CI23KD,TYKY |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) |