NDUFAF8

NDUFAF8 is a protein that in humans is encoded by the NDUFAF8 gene. The protein is a component of the mitochondrial respiratory chain complex I, a multi-subunit enzyme complex that functions in the transfer of electrons from NADH to the respiratory chain. The protein is involved in the assembly of the complex.

Function

The NDUFAF8 protein is a member of the NADH dehydrogenase (ubiquinone) complex I assembly factor family. Complex I is the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. It functions in the transfer of electrons from NADH to the respiratory chain. The protein is involved in the assembly of the complex.

Clinical significance

Mutations in the NDUFAF8 gene have been associated with mitochondrial complex I deficiency, a disorder characterized by a wide range of clinical manifestations, 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
• Mitochondrial DNA
• Mitochondrial myopathy

External links

• NDUFAF8 at the National Center for Biotechnology Information