NDUFAF5
Function
Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). Acts by mediating hydroxylation of 'Arg-111' of NDUFS7 (PubMed:27226634). May also have methyltransferase activity (Probable).
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 16
MC1DN16
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. MC1DN16 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 methyltransferase superfamily.
Cellular localization
- Mitochondrion inner membrane
- Peripherally localized on the matrix face of the mitochondrial inner membrane.
Alternative names
C20orf7, NDUFAF5, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5, Putative methyltransferase NDUFAF5