ATP5G2
ATP5G2: A Gene with a Crucial Role in Mitochondrial Function and Human Health
Description:
The ATP5G2 gene encodes a subunit of the mitochondrial ATP synthase complex, an enzyme responsible for generating the cellular energy currency, adenosine triphosphate (ATP). ATP is essential for powering various cellular processes, including metabolism, muscle contraction, and nerve function.
Associated Diseases:
Mutations in the ATP5G2 gene have been linked to a range of disorders, including:
- Leigh syndrome: A severe genetic disorder that affects infants and children, causing developmental delays, muscle weakness, and seizures.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A rare condition characterized by recurrent strokes, seizures, and muscle fatigue.
- Cardiomyopathy: A disease of the heart muscle that can lead to heart failure.
- Autism spectrum disorder: Some studies have suggested an association between ATP5G2 mutations and certain traits of autism, such as social difficulties and repetitive behaviors.
Did you Know ?
Approximately 1 in 50,000 individuals carry a mutation in the ATP5G2 gene. These mutations can have varying effects, depending on their location and severity.
