NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11
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 14
MC1DN14
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. MC1DN14 transmission pattern is consistent with autosomal recessive inheritance.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the complex I NDUFA11 subunit family.
Cellular localization
- Mitochondrion inner membrane
- Multi-pass membrane protein
- Matrix side
Alternative names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11, Complex I-B14.7, NADH-ubiquinone oxidoreductase subunit B14.7, CI-B14.7, NDUFA11