NDUFB9

Description

The NDUFB9 gene provides instructions for making a protein called NADH dehydrogenase (ubiquinone) iron-sulfur protein 9, a subunit of complex I, a crucial enzyme in the electron transport chain. Complex I plays a central role in cellular respiration, the process that converts food into energy. NDUFB9 is located within the mitochondrial DNA (mtDNA), a small circular chromosome found inside mitochondria, the powerhouses of cells. Mutations in the NDUFB9 gene can disrupt complex I function, leading to a variety of health issues.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Myoclonic epilepsy with ragged red fibers (MERRF)
• Chronic progressive external ophthalmoplegia (CPEO)
• Neuropathy, ataxia, and retinitis pigmentosa (NARP)

Did you know?

Mutations in the NDUFB9 gene can be inherited from either parent or can occur spontaneously.