NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10
Function
Accessory subunit that is involved in the functional assembly of the mitochondrial respiratory chain complex I. Complex I has an NADH dehydrogenase activity with ubiquinone as an immediate electron acceptor and mediates the transfer of electrons from NADH to the respiratory chain.
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 35
MC1DN35
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. MC1DN35 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
The formation of intramolecular disulfide bonds is assisted by CHCHD4 and ensures folding, import into the mitochondrion and is required for the function in mitochondrial respiratory chain complex I assembly.
Sequence Similarities
Belongs to the complex I NDUFB10 subunit family.
Cellular localization
- Mitochondrion inner membrane
- Peripheral membrane protein
- Matrix side
Alternative names
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10, Complex I-PDSW, NADH-ubiquinone oxidoreductase PDSW subunit, CI-PDSW, NDUFB10