Aliases for CDKL5 Gene
External Ids for CDKL5 Gene
Previous HGNC Symbols for CDKL5 Gene
Previous GeneCards Identifiers for CDKL5 Gene
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, Jul 2008]
GeneCards Summary for CDKL5 Gene
CDKL5 (Cyclin Dependent Kinase Like 5) is a Protein Coding gene. Diseases associated with CDKL5 include Epileptic Encephalopathy, Early Infantile, 2 and Rett Syndrome. Among its related pathways are Sweet Taste Signaling and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CDKL2.
UniProtKB/Swiss-Prot Summary for CDKL5 Gene
Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175).