The CDKL5 gene encodes an enzyme belonging to the serine/threonine kinase family. The enzyme is responsible for the phosphorylation of MECP2, a protein involved in the maintenance of synapses between neurons. While the other targets of the CDKL5 kinase are not yet known, the enzyme is believed to play a role in neuron migration, dendrite morphogenesis and axon extension.
The gene has been implicated in Epileptic Encephalopathy, Early Infantile, 2 (EIEE2), a neurologic disorder characterized by severe global developmental delay, infantile-onset seizures and mental retardation.