CDKL5
Function
Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175).
Involvement in disease
Chromosomal aberrations involving CDKL5 are found in patients manifesting early-onset seizures and spams and psychomotor impairment. Translocation t(X;6)(p22.3;q14); translocation t(X;7)(p22.3;p15).
Developmental and epileptic encephalopathy 2
DEE2
A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, DEE2 and Rett syndrome are considered two distinct entities.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Autophosphorylated.
Sequence Similarities
Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Tissue Specificity
Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.
Isoform 2
Predominant transcript in brain.
Cellular localization
- Nucleus
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
Alternative names
STK9, CDKL5, Cyclin-dependent kinase-like 5, Serine/threonine-protein kinase 9