ATP5G3
ATP5G3: Unveiling a Gene Linked to Mitochondrial Health and Disease
Description:
ATP5G3, also known as ATP synthase subunit gamma, mitochondrial, is a crucial gene encoding a subunit of the mitochondrial ATPase enzyme. This enzyme plays a pivotal role in the production of adenosine triphosphate (ATP), the primary energy currency of cells. ATP is essential for numerous cellular processes, including metabolism, protein synthesis, and muscle contraction.
ATP5G3 is located on chromosome 3 in humans and is expressed in all tissues throughout the body. The protein is predominantly found in the inner mitochondrial membrane, where it forms part of the ATP synthase complex. This complex comprises five different subunits and acts as a molecular motor that uses the energy from a proton gradient across the mitochondrial membrane to drive ATP synthesis.
Associated Diseases:
Mutations in the ATP5G3 gene have been linked to several mitochondrial diseases, including:
- Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS): A neurological disorder characterized by seizures, muscle weakness, hearing loss, and recurrent strokes.
- Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A multisystem disorder affecting the nervous system, gastrointestinal tract, and muscles, causing gastrointestinal symptoms, muscle weakness, and neurological issues.
- Pearson Syndrome: A rare genetic disorder characterized by severe anemia, bone marrow failure, and pancreatic dysfunction in infants.
Did you Know ?
Mitochondrial diseases, including those linked to mutations in ATP5G3, are estimated to affect approximately 1 in 5,000 individuals worldwide. These diseases can vary in severity and presentation, and their impact on health and quality of life can range from mild to life-threatening.
