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STK9 / CDKL5 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.
Gene Name: | cyclin-dependent kinase-like 5 |
Family/Subfamily: | Protein Kinase , CDKL |
Synonyms: | CDKL5, Cyclin-dependent kinase-like 5, ISSX, Serine/threonine kinase 9, STK9, EIEE2 |
Target Sequences: | NM_003159 NP_003150.1 O76039 |
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