CDKL5 gene
The CDKL5 gene provides instructions for a protein essential for normal brain development, nerve cell function, and synaptic signaling.
Normal Function
The CDKL5 gene provides instructions for making a protein that is most active in the brain. The CDKL5 protein acts as a kinase, an enzyme that modifies the activity of other proteins by adding a phosphate group to them. It is involved in the formation, growth, and migration of nerve cells (neurons) and the transmission of chemical signals at the connections between neurons (synapses). It may target the MeCP2 protein, which is also critical for neuronal function.
Health Conditions Related to Genetic Changes
CDKL5 deficiency disorder
At least 150 mutations in the CDKL5 gene cause CDKL5 deficiency disorder, a rare condition characterized by:
- Seizures beginning in infancy
- Significant developmental delays
- Severe intellectual disability
- Inability to walk independently
About 90 percent of those diagnosed are female. While previously classified as an atypical form of Rett syndrome, it is now considered a separate condition. Mutations in the CDKL5 gene reduce the amount of functional protein or alter its activity in neurons. Mutations in the kinase domain—the region essential for the protein's function—are associated with more severe signs and symptoms compared to mutations in other regions of the protein.
Other Names for This Gene
- CDKL5_HUMAN
- CFAP247
- cyclin-dependent kinase-like 5
- serine/threonine kinase 9
- STK9