NDUFAF4
Function
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:18179882, PubMed:28853723). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 15
MC1DN15
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. MC1DN15 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
Phosphorylated on serine. Prolactin stimulate serine phosphorylation (By similarity).
Sequence Similarities
Belongs to the NDUFAF4 family.
Cellular localization
- Mitochondrion
- Membrane
- Lipid-anchor
Alternative names
C6orf66, HRPAP20, HSPC125, My013, NDUFAF4, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4, Hormone-regulated proliferation-associated protein of 20 kDa