NDUFAF1

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19.

NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1

As part of the MCIA complex, involved in the assembly of the mitochondrial complex I.

Chaperone-mediated protein complex assembly Source: UniProtKB
Mitochondrial electron transport, NADH to ubiquinone Source: GO_Central
Mitochondrial respiratory chain complex I assembly Source: UniProtKB
NADH dehydrogenase complex assembly Source: GO_Central
Protein-containing complex assembly Source: UniProtKB

Mitochondrion
Mitochondrion matrix
Note: Peripherally associated with the matrix face of the mitochondrial inner membrane.

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.