ATP6V1F
ATP6V1F: Unraveling the Genetic Enigma of Neurological Disorders
Description
ATP6V1F is a gene that encodes a subunit of the vacuolar adenosine triphosphatase (V-ATPase) enzyme. V-ATPases are essential proteins involved in acidification processes within cells. They maintain pH gradients across cellular membranes, facilitating the uptake and release of various ions, nutrients, and waste products.
Associated Diseases
Mutations in the ATP6V1F gene have been linked to several neurological disorders, including:
- Infantile Neuroaxonal Dystrophy (INAD): A severe neurodegenerative disorder characterized by progressive loss of motor function, cognitive impairment, and early death.
- Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A mitochondrial disorder that causes seizures, migraines, muscle weakness, and other neurological symptoms.
- Leigh Syndrome: A fatal neurodegenerative disorder in infants characterized by severe brain damage and early mortality.
- Parkinson's Disease: A neurodegenerative disorder that affects movement and coordination.
Did you Know ?
Mutations in the ATP6V1F gene account for approximately 10-15% of cases of INAD, one of the most common neurodegenerative disorders of childhood.
