COX14

COX14 is a protein that in humans is encoded by the COX14 gene. It is involved in the assembly of cytochrome c oxidase, a key component of the mitochondrial respiratory chain.

Function

The COX14 protein is a chaperone protein that assists in the assembly of the cytochrome c oxidase complex. This complex is the final component of the mitochondrial respiratory chain, which is responsible for the generation of ATP through the process of oxidative phosphorylation. The COX14 protein is thought to play a crucial role in the early stages of cytochrome c oxidase assembly.

Clinical significance

Mutations in the COX14 gene have been associated with a form of mitochondrial disease known as Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. Symptoms of Leigh syndrome include progressive loss of mental and movement abilities, which can result in early death.

See also

• Cytochrome c oxidase
• Mitochondrial disease
• Leigh syndrome

External links

• COX14 at the National Center for Biotechnology Information