NDUFB7
Domain
Contains two C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds.
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.
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 39
MC1DN39
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. MC1DN39 is an autosomal recessive form characterized by intrauterine growth retardation, anemia, and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the complex I NDUFB7 subunit family.
Cellular localization
- Mitochondrion inner membrane
- Peripheral membrane protein
- Mitochondrion intermembrane space
Alternative names
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7, Cell adhesion protein SQM1, Complex I-B18, NADH-ubiquinone oxidoreductase B18 subunit, CI-B18, NDUFB7