NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
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:17275378). Essential for the catalytic activity of complex I (PubMed:17275378).
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 3
MC1DN3
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. MC1DN3 transmission pattern is consistent with autosomal recessive inheritance.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Hydroxylated ar Arg-111 by NDUFAF5 early in the pathway of assembly of complex I, before the formation of the juncture between peripheral and membrane arms.
Sequence Similarities
Belongs to the complex I 20 kDa subunit family.
Cellular localization
- Mitochondrion inner membrane
- Peripheral membrane protein
- Matrix side
Alternative names
Complex I-20kD, NADH-ubiquinone oxidoreductase 20 kDa subunit, PSST subunit, CI-20kD, NDUFS7