NDUFAF3

NDUFAF3 is a protein that in humans is encoded by the NDUFAF3 gene. The protein is a component of the mitochondrial complex I assembly, which is located in the mitochondrial inner membrane. Mitochondrial complex I is composed of 44 different subunits and is the largest of the five complexes of the electron transport chain.

Function

The NDUFAF3 protein is involved in the assembly of the mitochondrial complex I. It is required for the early steps of complex I assembly and is believed to aid in the incorporation of iron-sulfur clusters into complex I. The protein is also thought to be involved in the biogenesis of the mitochondria.

Clinical significance

Mutations in the NDUFAF3 gene have been associated with mitochondrial complex I deficiency, a disorder that can cause a wide variety of clinical manifestations, including leukodystrophy, cardiomyopathy, and Leigh syndrome. Patients with mutations in this gene often present with severe multisystem disease in infancy.

Research

Research into the NDUFAF3 gene and protein is ongoing. Current research is focused on understanding the exact role of the protein in complex I assembly and how mutations in the gene cause disease. This research may lead to new treatments for mitochondrial diseases.

See also

• Mitochondrial complex I
• Mitochondrial disease
• Leigh syndrome