COX4I2

COX4I2 is a gene that encodes the COX4 subunit 2 of the cytochrome c oxidase complex, also known as Complex IV, in the mitochondrial respiratory chain. This complex is responsible for the final step in the electron transport chain, which is the transfer of electrons from cytochrome c to oxygen, resulting in the production of water.

Function

The COX4I2 gene encodes for a protein that is a component of the cytochrome c oxidase complex. This complex is a part of the mitochondrial respiratory chain and is involved in the transfer of electrons from cytochrome c to oxygen. This process results in the production of water and is crucial for the generation of ATP, the main energy source for the cell.

Clinical significance

Mutations in the COX4I2 gene have been associated with various diseases. For instance, a deficiency in the COX4I2 protein can lead to mitochondrial disease, a group of disorders caused by dysfunctional mitochondria. Symptoms of mitochondrial disease can range from mild to severe and can affect multiple organ systems.

Research

Research on the COX4I2 gene and its encoded protein is ongoing. Studies have suggested that the COX4I2 protein may play a role in the regulation of cellular respiration, apoptosis, and oxidative stress. Further research is needed to fully understand the function and significance of this gene and its protein product.

See also

• Cytochrome c oxidase
• Mitochondrial respiratory chain
• Mitochondrial disease