COX4I1

Description

The COX4I1 gene encodes subunit IV-1 of cytochrome c oxidase, a crucial enzyme in the electron transport chain. This chain is responsible for generating adenosine triphosphate (ATP), the primary energy currency of cells. COX4I1 plays a vital role in oxidative phosphorylation, the process by which energy from food is converted into ATP. Mutations in the COX4I1 gene can lead to mitochondrial dysfunction and various associated diseases.

Associated Diseases

• Leigh Syndrome
• Mitochondrial complex IV deficiency
• Mitochondrial Encephalomyopathy
• Cardiomyopathy
• Hepatic Failure
• Neurodevelopmental Disorders

Did you know?

COX4I1 is highly conserved across species, highlighting its fundamental importance in cellular respiration.