NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8
Domain
Contains four 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 (PubMed:27626371, PubMed:32385911, PubMed:33153867). Complex I functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371). The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371).
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 37
MC1DN37
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. MC1DN37 features include developmental delay, cerebral atrophy, epilepsy, growth retardation, congenital myopathy with disproportion of fibers, and severely decreased activity of complex I. MC1DN37 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
May contain intrachain disulfide bonds, as evidenced by its electrophoretic mobility under reducing vs non-reducing conditions.
Sequence Similarities
Belongs to the complex I NDUFA8 subunit family.
Cellular localization
- Mitochondrion inner membrane
- Peripheral membrane protein
- Mitochondrion intermembrane space
- Mitochondrion
Alternative names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8, Complex I-19kD, Complex I-PGIV, NADH-ubiquinone oxidoreductase 19 kDa subunit, CI-19kD, CI-PGIV, NDUFA8