Gene Symbol | CDKL5 |
Entrez Gene ID | 6792 |
Full Name | cyclin dependent kinase like 5 |
Synonyms | CFAP247,EIEE2,ISSX,STK9 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 2, 300672 (3) |