COA3

COA3 (also known as Mitochondrial Complex IV Assembly Factor 3) is a protein that in humans is encoded by the COA3 gene. It is a crucial component in the assembly of mitochondrial respiratory chain complex IV, also known as cytochrome c oxidase (COX).

Function

COA3 is a small mitochondrial protein that is essential for the assembly and activity of COX, which is the terminal enzyme in mitochondrial electron transport chain. COX is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The COA3 protein is associated with the matrix face of the inner mitochondrial membrane and is thought to play a role in the biogenesis of COX.

Clinical significance

Mutations in the COA3 gene have been associated with Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure.

See also

• Mitochondrial disease
• Cytochrome c oxidase deficiency

External links

• NCBI Gene
• UniProt