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.
