NDUFAF5

Description

The NDUFAF5 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 within mitochondria. This chain is responsible for generating energy (ATP) from food, which is essential for cellular processes. NDUFAF5 helps ensure that complex I is correctly assembled, enabling efficient energy production. Defects in NDUFAF5 can disrupt this process, leading to mitochondrial dysfunction and various health problems.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Complex I Deficiency
• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)
• Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
• Neurodegenerative Diseases

Did you know?

Mutations in the NDUFAF5 gene are often associated with Leigh Syndrome, a severe neurological disorder characterized by progressive brain damage.