ATP5EP2
ATP5EP2: The Gene that Regulates ATP Synthase Activity
Description
ATP5EP2, also known as ATP synthase epsilon subunit 2, is a gene that encodes a subunit of ATP synthase, a vital enzyme complex that produces ATP, the primary energy currency of cells. ATP5EP2 is specifically responsible for regulating the activity of ATP synthase, ensuring that cells can produce the ATP they need to function properly.
Associated Diseases
Mutations in ATP5EP2 have been linked to several diseases, including:
- Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A rare genetic disorder characterized by recurrent seizures, strokes, and cognitive impairment.
- Leigh Syndrome: A severe neurodegenerative disorder that affects infants and young children, resulting in developmental delays, seizures, and muscle weakness.
- Other Mitochondrial Disorders: Mutations in ATP5EP2 can also contribute to a range of mitochondrial disorders, which disrupt energy production within cells.
Did you Know ?
ATP5EP2 mutations are estimated to account for approximately 10% of cases of MELAS, making it a relatively common cause of this mitochondrial disorder.
