NDUFS8 cDNA Clone – NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8, 23kDa (NADH-Coenzyme Q Reductase) (Human)

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]

TYKY: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. May donate electrons to ubiquinone. Defects in NDUFS8 are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Belongs to the complex I 23 kDa subunit family.

Protein type: Energy Metabolism - oxidative phosphorylation; EC 1.6.99.3; Mitochondrial; EC 1.6.5.3; Oxidoreductase

Chromosomal Location of Human Ortholog: 11q13

Cellular Component: mitochondrial matrix; mitochondrial respiratory chain complex I; mitochondrion

Molecular Function: NADH dehydrogenase (ubiquinone) activity; NADH dehydrogenase activity

Biological Process: mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I assembly; response to oxidative stress

Disease: Leigh Syndrome