NDUFB6

NDUFB6 is a protein that in humans is encoded by the NDUFB6 gene. The protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.

Function

The NDUFB6 protein is a subunit of the respiratory chain Complex I (RCI), which is the first enzyme complex in the electron transport chain of mitochondria. RCI is responsible for transferring electrons from NADH to ubiquinone, a process that is coupled to proton translocation across the inner mitochondrial membrane. This process contributes to the mitochondrial membrane potential, which is used for ATP synthesis.

Structure

The NDUFB6 gene is located on the q arm of chromosome 8 at position 21.3 and spans 14,597 base pairs. The NDUFB6 protein weighs 17.3 kDa and is composed of 161 amino acids. The protein is a subunit of the enzyme complex known as Complex I, which consists of 44 different subunits.

Clinical significance

Mutations in the NDUFB6 gene have been associated with mitochondrial complex I deficiency, a disorder that can cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the nervous system and the heart. Symptoms can range from lethargy and poor muscle tone to seizures and heart disease.

See also

• Mitochondrial disease
• Electron transport chain
• Mitochondrial membrane potential