NDUFA4

Description

NDUFA4, also known as NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, is a nuclear-encoded protein that plays a crucial role in mitochondrial respiration. It is a subunit of Complex I, the first enzyme in the electron transport chain (ETC). Complex I is responsible for transferring electrons from NADH to ubiquinone, generating a proton gradient that drives ATP synthesis. NDUFA4 is essential for the proper assembly and function of Complex I, and its deficiency can lead to severe mitochondrial disorders.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Chronic progressive external ophthalmoplegia (CPEO)
• Mitochondrial myopathy
• Neurodegeneration

Did you know?

NDUFA4 mutations are often associated with specific clinical phenotypes, such as Leigh syndrome, which is characterized by progressive neurodegeneration and lactic acidosis.