NDUFAF2

Description

NDUFAF2 (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2) is a crucial gene involved in the assembly of complex I, a primary component of the mitochondrial electron transport chain. Complex I plays a vital role in cellular energy production by generating ATP through oxidative phosphorylation. NDUFAF2 acts as a chaperone protein, guiding the proper folding and assembly of the complex I subunits, ensuring efficient electron transfer and ATP synthesis. Mutations in NDUFAF2 can disrupt this process, leading to impaired mitochondrial function and various associated diseases.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Myoclonic epilepsy with ragged-red fibers (MERRF)
• Neurodegenerative diseases like Parkinson‘s disease and Alzheimer‘s disease

Did you know?

Mutations in NDUFAF2 are particularly prevalent in Leigh syndrome, a severe neurological disorder affecting infants and children.