NDUFB3

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.

Topology

Helical: 66-88

PTM

Methylation at His residues by METTL9 enhances complex I-mediated mitochondrial respiration.