The mutations in PI4KA produce a protein that is absent or does not work well. The protein participates in Phosphoinositide lipids metabolism and is highly expressed in the brain. These lipids are important for the control of cell shape and motility and thus also affect the interaction of cells with their environment.
In addition, polyphosphoinositides act as cellular messengers and are involved in cell survival, cell growth, adhesion and migration of the immune cells.
PI4KA