NDUFB8

Description

The NDUFB8 gene provides instructions for making a protein that is part of a large complex called NADH dehydrogenase (ubiquinone) or complex I. This complex is located in the mitochondria, which are the powerhouses of cells. Complex I is essential for the electron transport chain, a series of chemical reactions that generate energy in the form of ATP. Mutations in the NDUFB8 gene can disrupt the function of complex I, leading to a variety of health problems.

Associated Diseases

• Leigh syndrome
• Mitochondrial complex I deficiency
• Global developmental delay
• Neurodegenerative disorders

Did you know?

Mutations in the NDUFB8 gene are particularly common in Leigh syndrome, a rare neurodegenerative disorder that affects infants and children.