ATP5G1
ATP5G1: Essential Energy Producer with Far-Reaching Implications
Description
ATP5G1 is a gene that encodes a core protein within the adenosine triphosphate (ATP) synthase complex. This complex is crucial for generating ATP, the universal energy currency that powers myriad cellular processes. ATP5G1 is primarily located in the inner mitochondrial membrane, where it plays a key role in the final step of oxidative phosphorylation, the process by which cells extract energy from glucose and other nutrients.
Associated Diseases
Mutations in the ATP5G1 gene have been linked to several mitochondrial disorders, including:
- Leigh Syndrome: A severe neurodegenerative disorder characterized by developmental delays, muscle weakness, and seizures.
- Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS): A condition that causes recurrent strokes, seizures, and muscle weakness.
- Kearns-Sayre Syndrome: A rare disorder that affects the brain, heart, and skeletal muscles, leading to progressive weakness, ataxia, and vision problems.
Did you Know ?
Mitochondrial disorders, including those associated with ATP5G1 mutations, affect approximately 1 in 5,000 newborns.
