The multisubunit NADH:ubiquinone oxidoreductase (complex I) is the first enzyme complex in the electron transport chain of mitochondria. See NDUFA2 (MIM 602137).[supplied by OMIM
Full Name
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
Function
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.
Biological Process
Aerobic respiration Source: ComplexPortal
Mitochondrial ATP synthesis coupled proton transport Source: ComplexPortal
Mitochondrial electron transport, NADH to ubiquinone Source: ProtInc
Mitochondrial respiratory chain complex I assembly Source: UniProtKB
Cellular Location
Mitochondrion inner membrane
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 25 (MC1DN25):
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. MC1DN25 transmission pattern is consistent with autosomal recessive inheritance.
PTM
Methylation at His residues by METTL9 enhances complex I-mediated mitochondrial respiration.
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