COX8A

Description

The COX8A gene plays a critical role in cellular respiration, the process by which our cells convert food into energy. It encodes a subunit of cytochrome c oxidase, a key enzyme in the electron transport chain. This enzyme is located within the mitochondria, often called the "powerhouses of the cell", and is responsible for the final step in the production of ATP, the cell‘s primary energy currency. COX8A is essential for proper mitochondrial function and overall cellular health.

Associated Diseases

• Leigh syndrome: A severe neurodegenerative disorder characterized by brain abnormalities and developmental delays.
• Mitochondrial complex IV deficiency
• Mitochondrial myopathies: A group of disorders affecting muscle function due to mitochondrial dysfunction.
• Cardiomyopathy: A condition affecting the heart muscle, often leading to heart failure.

Did you know?

COX8A is one of the most conserved genes across different species, highlighting its critical importance for life.