COX8A

COX8A is a gene that encodes for a subunit of the cytochrome c oxidase complex (also known as Complex IV), which is the last enzyme in the mitochondrial electron transport chain. This gene is located on the chromosome 11 in humans. Mutations in the COX8A gene have been associated with a rare form of Leigh syndrome, a severe neurological disorder that typically arises in the first year of life.

Function

The COX8A gene provides instructions for making a protein that is a component of the cytochrome c oxidase complex. This complex is part of the mitochondrial electron transport chain, which uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. The COX8A protein is one of several proteins in the complex that carry out these energy-producing processes.

Clinical significance

Mutations in the COX8A gene can cause a form of Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. Symptoms of Leigh syndrome may include poor sucking ability, loss of head control and motor skills, loss of appetite, vomiting, irritability, continuous crying, and seizures. The disease is characterized by progressive damage to the central nervous system.

Genetics

The COX8A gene is located on the q arm of chromosome 11 in position 23.3, from base pair 118,367,658 to base pair 118,370,958. The gene is encoded by 4 exons.

See also

• Cytochrome c oxidase
• Leigh syndrome
• Mitochondrial disease

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External links

• COX8A at the National Center for Biotechnology Information
• COX8A at Genetics Home Reference

Further reading

• Hallmann K, Kudin AP, Zsurka G, et al. (2015). "Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy." Brain. 138(Pt 2): 338–345. doi:10.1093/brain/awu379. PMC 4285195. PMID 25525159.