ATP5H
ATP5H: A Vital Protein in Mitochondrial Function and Human Health
Description:
ATP5H, also known as ATP synthase subunit H, is a protein that plays a crucial role in cellular energy production. It is a component of the ATP synthase complex, located in the inner membrane of mitochondria, the energy powerhouses of the cell. The ATP synthase complex is responsible for generating adenosine triphosphate (ATP), the body's primary energy currency.
Associated Diseases:
Mutations in the ATP5H gene have been linked to several human diseases, including:
- Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A severe neurodegenerative disorder characterized by muscle weakness, seizures, and an increased risk of stroke.
- Leigh Syndrome: A fatal childhood disorder that affects the central nervous system and is often associated with impaired mitochondrial function.
- Neurogenic Weakness, Ataxia, and Retinitis Pigmentosa (NARP): A neuromuscular disorder that causes muscle weakness, poor coordination, and impaired vision.
Did you Know ?
Approximately 1 in 5,000 individuals worldwide is estimated to have a mutation in the ATP5H gene. These mutations can vary in severity and can lead to different clinical presentations of the associated diseases.
