ATP5O
ATP5O: The Energy Generator
Description:
ATP5O (ATP synthase subunit O) is a protein that plays a crucial role in the energy production process of our cells. It is an essential component of the ATP synthase complex, which is responsible for generating adenosine triphosphate (ATP), the primary energy currency of the body. ATP5O is located in the inner mitochondrial membrane, where it interacts with other subunits to form a rotating machinery that drives ATP synthesis.
Associated Diseases:
Mutations in the ATP5O gene have been linked to a range of neurological disorders, including:
- Leigh Syndrome: A severe mitochondrial disease that affects infants and young children, causing developmental delays, seizures, and muscle weakness.
- Leigh-like Syndrome: A milder form of Leigh syndrome with similar symptoms.
- Epileptic Encephalopathy: A rare type of epilepsy that can be caused by mutations in ATP5O.
Did you Know ?
ATP5O mutations are estimated to account for about 1% of cases of Leigh Syndrome and Leigh-like Syndrome.
