ARHGEF39

The protein functions as a guanyl-nucleotide exchange factor that promotes cell proliferation and regulates cell migration at the plasma membrane. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe developmental delay, epilepsy, and brain malformations. The gene shows tolerance to loss-of-function variation, which is consistent with the recessive inheritance pattern observed in affected individuals.