This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]
Function:
Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).
Subunit:
Interacts with NDUFAF4, NDUFS2 and NDUFS3.
Subcellular Location:
Nucleus. Mitochondrion inner membrane.
DISEASE:
Defects in NDUFAF3 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, 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.
SWISS:
Q9BU61
Gene ID:
25915
Database links:
Entrez Gene: 25915 Human
Entrez Gene: 56769 Rat
Omim: 612911 Human
SwissProt: Q9BU61 Human
SwissProt: O08776 Rat
Unigene: 31387 Human
Unigene: 40118 Rat
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