Potassium voltage-gated channel subfamily B member 1 (KCNB1)

Potassium voltage-gated channel subfamily B member 1 (KCNB1), also known as Kv2.1, is a tetrameric, voltage-gated potassium ion channel that serves as a key delayed rectifier in neurons and other excitable cells. KCNB1 channels are heavily expressed in the brain but are also present in heart, pancreas, and other tissues. They mediate the outward potassium current that is critical for repolarizing the membrane potential during action potentials. By doing so, KCNB1 channels regulate neuronal excitability, signal transmission, heart rhythm, insulin secretion, and smooth muscle tone. Pathogenic mutations in the KCNB1 gene are associated with neurodevelopmental disorders, particularly developmental and epileptic encephalopathies (DEE26), marked by seizures, cognitive impairment, and developmental delay. While some small-molecule inhibitors like tetraethylammonium are known to block potassium channels, there are currently no approved therapeutics directly targeting KCNB1, and inhibiting these channels broadly poses serious safety risks due to their physiological importance across multiple organ systems.

Other names

Kv2.1Delayed rectifier potassium channel 1Shab-related subfamily member 1DRK1h-DRK1Voltage-gated potassium channel subunit Kv2.1DEE26 (referring to disease association: Developmental and Epileptic Encephalopathy 26)

Blockage or inhibition of potassium ion flow through the channel, thereby altering neuronal membrane potential and excitability. Some disease mutations result in gain-of-function or loss-of-function, affecting excitability or apoptosis.