COX4I2

Description

The COX4I2 gene provides instructions for making a protein that is a subunit of cytochrome c oxidase, a crucial enzyme in the mitochondrial electron transport chain. This chain is responsible for producing ATP, the primary energy source for cells. The protein encoded by COX4I2 plays a role in the assembly and stability of cytochrome c oxidase, ensuring its proper function in cellular respiration. Mutations in COX4I2 can lead to a variety of diseases affecting different organs and tissues.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Myoclonic epilepsy with ragged-red fibers (MERRF)
• Cardiomyopathy
• Neurodegeneration

Did you know?

COX4I2 is a highly conserved gene, meaning its sequence is very similar across different species, highlighting its essential role in cellular function.