NDUFS8

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.

NADH:UBIQUINONE OXIDOREDUCTASE CORE SUBUNIT S8

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22499348).

Essential for the catalytic activity and assembly of complex I (PubMed:22499348).

Aerobic respiration Source: GO_Central
Mitochondrial ATP synthesis coupled proton transport Source: ComplexPortal
Mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
Mitochondrial respiratory chain complex I assembly Source: UniProtKB
Response to oxidative stress Source: UniProtKB

Mitochondrion inner membrane

Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2):
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN2 inheritance is autosomal recessive.