NDUFA8

Description

NDUFA8 is a gene that encodes a subunit of NADH dehydrogenase, a crucial enzyme in the electron transport chain. Located in the mitochondria, this complex plays a critical role in cellular respiration, converting energy from food into ATP, the body‘s primary energy source. NDUFA8‘s function is essential for the proper functioning of this chain, ensuring efficient energy production. Mutations in NDUFA8 can lead to a disruption in this process, causing various cellular and physiological issues.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Encephalomyopathy
• Complex I Deficiency
• Neurodegenerative Disorders
• Infancy-Onset Mitochondrial Disease

Did you know?

Mutations in NDUFA8 have been linked to a specific form of Leigh Syndrome, a rare but severe neurodegenerative disorder, highlighting the critical role of this gene in brain development and function.