The KCNMA1 gene encodes the pore-forming alpha subunit of the voltage-gated potassium channel. This channel can be activated by both membrane depolarization as well as by intracellular calcium ions and it allows strong conductance of potassium ions through cell membranes. By carrying out this function, the potassium channel is responsible for the regulation of smooth muscle contraction and the apoptotic process as well as the response to osmotic stress, hypoxia and carbon monoxide.
The KCNMA1 gene is associated with Generalized Epilepsy and Paroxysmal Dyskinesia (GEPD), an autosomal dominant disorder characterized by epileptic seizures, paroxysmal nonkinesigenic dyskinesia and developmental delay.