CDKL5( Human )

Entrez Gene 6792 Entrez Gene 6792
cyclin dependent kinase like 5

Alias

CFAP247|EIEE2|ISSX|STK9

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].

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