COX18, cytochrome c oxidase assembly factor

COX18, Cytochrome c Oxidase Assembly Factor

File:COX18 protein model.jpg

A model of the COX18 protein. Image courtesy of Wikimedia Commons.

COX18, cytochrome c oxidase assembly factor is a protein that in humans is encoded by the COX18 gene. This protein is a crucial component in the assembly of cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain.

Function

COX18 is involved in the insertion of transmembrane segments of the COX2 subunit into the mitochondrial inner membrane. The COX2 subunit is one of the three mitochondrially-encoded subunits of cytochrome c oxidase. The exact mechanism of action of COX18 is still under investigation, but it is known to be essential for the function of the electron transport chain.

Clinical Significance

Mutations in the COX18 gene have been associated with Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. This association suggests that COX18 may have a broader role in neurodevelopment and neurodegeneration.

See Also

• Cytochrome c oxidase
• Mitochondrial respiratory chain
• Leigh syndrome

External Links

• COX18 at the National Center for Biotechnology Information