NDUFAF1
Function
As part of the MCIA complex, involved in the assembly of the mitochondrial complex I.
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 11
MC1DN11
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. MC1DN11 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 CIA30 family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Mitochondrion
- Mitochondrion matrix
- Peripherally associated with the matrix face of the mitochondrial inner membrane.
Alternative names
CIA30, CGI-65, NDUFAF1, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1