NDUFS8

Description

The NDUFS8 gene provides instructions for making a protein that is a component of complex I, the first enzyme in the electron transport chain. This chain is essential for cellular respiration, the process that converts food into energy. Complex I plays a crucial role in generating ATP, the cell‘s primary energy source. Mutations in NDUFS8 can disrupt the function of complex I, leading to a deficiency in energy production. This can have wide-ranging effects on various tissues and organs, contributing to a spectrum of clinical manifestations.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Complex I Deficiency
• Complex I Deficiency with Myopathy, Lactic Acidosis, and Sideroblastic Anemia
• Neurodegenerative Disorders
• Cardiomyopathy

Did you know?

Mutations in the NDUFS8 gene are among the most common causes of Leigh Syndrome, a severe neurological disorder that affects infants and children.