ACOT6
Acot6: A Key Player in Cell Function and Neurological Disorders
Description:
Acot6, also known as acetyl-CoA cytosolic thiolase, is an enzyme that plays a crucial role in fatty acid metabolism. It is responsible for catalyzing the final step in the breakdown of fatty acids, producing acetyl-CoA, a key substrate for energy production and lipid synthesis.
Associated Diseases:
Mutations in the ACOT6 gene have been linked to several neurological disorders, including:
- Epilepsy: Acot6 deficiency has been implicated in various types of epilepsy, including infantile seizures, childhood absence epilepsy, and juvenile myoclonic epilepsy.
- Infantile encephalopathy: Acot6 mutations can cause a severe form of encephalopathy in infants characterized by seizures, developmental delay, and neurological impairment.
- Neurodegenerative disorders: Acot6 deficiency has been associated with neurodegenerative diseases such as Alzheimer‘s disease and Parkinson‘s disease, although the exact mechanisms are still being investigated.
Did you Know ?
- Studies have shown that mutations in the ACOT6 gene account for approximately 1-2% of cases of epilepsy.
