KCNK3
KCNK3: A Key Potassium Channel in Neuronal Function and Disease
Description
KCNK3, also known as TASK-1 (TWIK-related acid-sensitive K+ channel), is a member of the voltage-gated K+ channel family. It is predominantly expressed in the central nervous system (CNS), where it plays a crucial role in regulating neuronal excitability and synaptic function.
KCNK3 channels are tetrameric proteins composed of four identical subunits. They are activated by extracellular pH changes and intracellular second messengers, making them highly responsive to neuronal activity. When activated, KCNK3 channels allow K+ ions to flow out of the neuron, hyperpolarizing the membrane and reducing its excitability.
Associated Diseases
Mutations in the KCNK3 gene have been linked to several neurological disorders, including:
- Epilepsy: Mutations in KCNK3 can disrupt neuronal excitability and lead to seizures.
- Schizophrenia: KCNK3 dysfunction has been implicated in the pathophysiology of schizophrenia, particularly with regard to cognitive deficits.
- Autism spectrum disorder (ASD): KCNK3 has been identified as a candidate gene for ASD, with mutations linked to social and cognitive impairments.
- Neurodevelopmental disorders: Mutations in KCNK3 have been associated with intellectual disability, developmental delays, and behavioral problems.
Did you Know ?
- In individuals with epilepsy, KCNK3 mutations account for approximately 0.5-1% of all cases.
