CDKL5 : cyclin dependent kinase like 5
Description
The CDKL5 (cyclin dependent kinase like 5) is a protein-coding gene located on chromosome X.
The CDKL5 gene provides instructions for making a protein that is found in cells and tissues throughout the body, but is most active in the brain. This protein is essential for normal brain development and function. There are five versions (isoforms) of the CDKL5 protein, varying in length and tissue abundance. Studies suggest that the CDKL5 protein is involved in the formation, growth, and movement (migration) of nerve cells (neurons), as well as cell division. It also plays a role in the transmission of chemical signals at the connections (synapses) between neurons. The CDKL5 protein acts as a kinase, an enzyme that changes the activity of other proteins by adding a phosphate group. One of the proteins targeted by the CDKL5 protein may be MeCP2, which is produced from the MECP2 gene. The MeCP2 protein plays important roles in the function of neurons and other brain cells and in the maintenance of neuronal synapses. Researchers have not determined which other proteins are targeted by the CDKL5 protein.
CDKL5 mediates phosphorylation of MECP2, potentially regulating ciliogenesis.
CDKL5 is also known as CFAP247, DEE2, EIEE2, ISSX, STK9.
Associated Diseases
- Infantile spasms syndrome
- Early infantile epileptic encephalopathy
- Atypical Rett syndrome
- Developmental and epileptic encephalopathy 2
- CDKL5-deficiency disorder
- CDKL5 deficiency disorder
