The majority of variants in RFX4lead to a reduction in the amount of protein produced, suggesting that the clinical features in individuals with RFX4variants may be due to insufficient RFX4 protein levels. RFX4 is found in the brain in a specific type of cell called astrocytes, which help support neuronal connections in the brain. This raises the possibility that deficiency of RFX4 may disrupt the function of these cells.
RFX4