ATP5L2
ATP5L2: The Heart of the Energy Machine
Description:
ATP5L2 is a gene that encodes a protein called subunit e of mitochondrial ATP synthase. This enzyme is responsible for producing the vast majority of the energy used by cells. ATP, the molecule that powers cellular processes, is generated by ATP synthase through a process called oxidative phosphorylation.
Associated Diseases:
Mutations in the ATP5L2 gene are associated with several rare and severe diseases, including:
- Leigh Syndrome: A fatal neurodegenerative disorder that affects infants, characterized by impaired energy production and developmental delays.
- Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A progressive neurological disorder that affects children and young adults, causing seizures, stroke-like episodes, and muscle weakness.
- Cardiomyopathy: A disease of the heart muscle that can lead to heart failure.
Did you Know ?
Only 1 in every 20,000 people is estimated to have a mutation in the ATP5L2 gene. However, these mutations have a significant impact on those affected.
