COA5

COA5 (also known as Coxa5, COX assembly mitochondrial protein COA5, or C12orf62) is a protein that in humans is encoded by the COA5 gene. It is a crucial component in the process of mitochondrial respiration and energy production within the cell. Mutations in the COA5 gene have been associated with Leigh syndrome, a severe neurological disorder that typically arises in the first year of life.

Function

COA5 is a small mitochondrial protein that is involved in the assembly of cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain. It plays a critical role in the biogenesis of COX, which is responsible for the transfer of reducing equivalents from cytochrome c to molecular oxygen, contributing to a proton electrochemical gradient across the inner mitochondrial membrane. This gradient is then used by ATP synthase for ATP production.

Clinical significance

Mutations in the COA5 gene have been linked to a form of 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, which can lead to early death. The COA5 gene mutation results in a decrease in COX activity, leading to a disruption in energy production and an increase in lactic acid levels.

Research

Research into COA5 and its role in mitochondrial function and disease is ongoing. Understanding the precise mechanisms of COA5 function and the impact of its mutations could lead to new therapeutic strategies for conditions like Leigh syndrome.

See also

• Leigh syndrome
• Mitochondrial disease
• Cytochrome c oxidase

References

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