NDUFAF1

NDUFAF1 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1) is a protein that in humans is encoded by the NDUFAF1 gene. This protein is a part of the mitochondrial respiratory chain complex I assembly, which is the largest of the respiratory complexes. The structure is L-shaped with a long, hydrophobic transmembrane domain and a hydrophilic domain for the peripheral arm that includes all the known redox centers and the NADH binding site.

Function

NDUFAF1 is an assembly factor for the NADH dehydrogenase (ubiquinone) complex, also known as Complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. NDUFAF1 is involved in the early steps of Complex I assembly and is necessary for the assembly of the peripheral arm and the connection between the membrane and peripheral arms.

Clinical significance

Mutations in the NDUFAF1 gene are associated with Mitochondrial complex I deficiency, 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's disease.

See also

• Mitochondrial disease
• Leigh syndrome
• Leber's hereditary optic neuropathy
• Parkinson's disease