Species Human Entrez 4728 | Human Mouse Ensembl ENSG00000110717 | |
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Aliases NDUFS8, CI-23k, CI23KD, TYKY, NADH:ubiquinone oxidoreductase core subunit S8 External IDs MGI: 2385079 HomoloGene: 1867 GeneCards: NDUFS8 | ||
NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial also known as NADH-ubiquinone oxidoreductase 23 kDa subunit is an enzyme that in humans is encoded by the NDUFS8 gene.
Contents
Function
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.
Clinical significance
Mutations in this gene have been associated with Leigh syndrome.
References
NDUFS8 Wikipedia(Text) CC BY-SA