NDUFAF3

Description

The NDUFAF3 gene provides instructions for making a protein that plays a crucial role in the assembly of complex I, a vital component of the electron transport chain (ETC) in mitochondria. This chain is responsible for generating ATP, the primary energy source for cells. NDUFAF3 protein acts as a chaperone, guiding the proper folding and integration of other proteins within complex I, ensuring its efficient function. Mutations in NDUFAF3 can disrupt this process, leading to mitochondrial dysfunction and a range of associated disorders.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Complex I Deficiency
• Infantile Mitochondrial Myopathy with Lactic Acidosis and Stroke-like Episodes (MILS)
• Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
• Other mitochondrial disorders

Did you know?

Mutations in NDUFAF3 can lead to a wide spectrum of clinical presentations, ranging from severe, early-onset disorders to milder, late-onset conditions.