NDUFAF2
Function
Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). 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 (PubMed:16200211, PubMed:27626371).
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 10
MC1DN10
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. MC1DN10 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 NDUFA12 subunit family.
Tissue Specificity
Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.
Cellular localization
- Mitochondrion
Alternative names
NDUFA12L, NDUFAF2, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2, B17.2-like, Mimitin, Myc-induced mitochondrial protein, NDUFA12-like protein, B17.2L, MMTN