KCNK9 : potassium two pore domain channel subfamily K member 9
The Role of TASK3 Potassium Channels in Brain Function and Disease
Description
The human genome contains a gene called KCNK9, which encodes a protein known as TASK3. This protein is a potassium channel, a vital component of our cells that helps maintain the electrical balance necessary for cellular communication. TASK3 channels specifically transport potassium ions, positively charged particles, across the cell membrane, contributing to the cell's resting potential and excitability.
Associated Diseases
Mutations in the KCNK9 gene have been linked to several neurological disorders, primarily impacting brain function.
- Benign neonatal familial convulsions (BFNC): A condition characterized by brief seizures in newborns, often disappearing within the first year of life.
- Epilepsy: Some forms of epilepsy, a neurological disorder characterized by recurrent seizures, have been associated with KCNK9 mutations.
- Intellectual disability: Mutations in KCNK9 have been linked to intellectual disability, affecting cognitive abilities and development.
- Autism spectrum disorder (ASD): Studies have suggested a possible association between KCNK9 variations and certain features of ASD, including impaired social communication.
- Schizophrenia: Research has explored the potential role of KCNK9 in the development of schizophrenia, a complex mental disorder involving altered thought patterns and perception.
Did you Know ?
20-30%: The estimated percentage of individuals with BFNC who have mutations in the KCNK9 gene.
