The KCNK9 gene encodes a specialized protein that forms the functional TASK3 ion channel when two copies dimerize. Ion channels are pores in cell membranes that regulate the movement of electrically-charged particles (e.g. potassium and sodium ions) into neurons and other cells. These ions carry electrical impulses necessary for the normal function of the cells involved. TASK3 ion channels are found throughout the body, but primarily in the brain. Alterations in the maternal copy of the KCNK9 gene result in disruption of normal activity of this ion channel and, in turn, affect the proper function and development of neurons.
KCNK9