NDUFS3

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency

Full Name

NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)

Function

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:14729820, PubMed:30140060).

Essential for the catalytic activity and assembly of complex I (PubMed:14729820, PubMed:24028823, PubMed:30140060).

Biological Process

Aerobic respiration Source: ComplexPortal
Mitochondrial ATP synthesis coupled proton transport Source: ComplexPortal
Mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
Mitochondrial respiratory chain complex I assembly Source: UniProtKB
Negative regulation of cell growth Source: UniProtKB
Negative regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
Reactive oxygen species metabolic process Source: UniProtKB
Substantia nigra development Source: UniProtKB

Cellular Location

Mitochondrion inner membrane

Involvement in disease

Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8):
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. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance.