PhenomeGene — Human Disease Gene Website SeriesCOQ4

Molecular characteristics

Genes are instructions for the body. The COQ4gene helps the body make coenzyme Q10, a substance the cell "power plants" need to make energy. In this condition both copies of the gene have a change (mutation), so too little CoQ10 is made and cells that need much energy do not work properly. The diagnosis is made with a genetic (DNA) test.