CDKL5

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq]

Full Name

cyclin-dependent kinase-like 5

Function

Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860).
May regulate ciliogenesis (PubMed:29420175).

Biological Process

Neuron migration Source: BHF-UCL
Positive regulation of axon extension Source: BHF-UCL
Positive regulation of dendrite morphogenesis Source: BHF-UCL
Positive regulation of dendritic spine development Source: Ensembl
Positive regulation of GTPase activity Source: BHF-UCL
Protein autophosphorylation Source: HGNC-UCL
Protein phosphorylation Source: GO_Central
Regulation of cilium assembly Source: UniProtKB
Regulation of dendrite development Source: BHF-UCL
Regulation of postsynapse organization Source: SynGO

Cellular Location

Nucleus; Cilium basal body; Centrosome

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.

PTM

Autophosphorylated.