COA6

COA6 is a gene that encodes a protein involved in the mitochondrial respiratory chain assembly. This gene is located on the long (q) arm of chromosome 1 at position 42.2. Mutations in the COA6 gene have been associated with Leigh syndrome, a severe neurological disorder that typically arises in the first year of life.

Function

The COA6 gene provides instructions for making a protein that is essential for normal function of mitochondria, the energy-producing centers within cells. The COA6 protein is involved in the assembly of an enzyme complex known as cytochrome c oxidase, which is the last enzyme in the mitochondrial respiratory chain. This chain uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source.

Clinical significance

Mutations in the COA6 gene can lead to a reduction in cytochrome c oxidase activity, which disrupts the mitochondrial respiratory chain and impairs energy production in cells. This can lead to the signs and symptoms of Leigh syndrome, which can include loss of appetite, vomiting, irritability, and seizures.

See also

• Leigh syndrome
• Mitochondrial disease
• Cytochrome c oxidase

References

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