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Immunogen sequence: AARANSLQLL SPQPGEQLPP EMTVARSSVK ETSREGTSSF HTRQKSEGGV YHDPHSDDGT APKENRHLYN DPVPRRVGSF YRVPSPRPDN SFHENNVSTR VSSLPSESSS GTNHSKRQPA FDP
CDKL5 serine/threonine kinase (STK9) is associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome and Rett syndrome (RTT). CDKL5 can control nuclear speckle morphology by regulating the phosphorylation state of splicing regulatory proteins, and may be involved indirectly in pre-mRNA processing by controlling splicing factor dynamics. The mutations in CDKL5 are major cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder.
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Protein Aliases: cyclin dependent kinase 5 transcript; Cyclin-dependent kinase-like 5; RP1-245G19.3; serine/threonine kinase 9; Serine/threonine-protein kinase 9
Gene Aliases: CDKL5; CFAP247; EIEE2; ISSX; STK9
UniProt ID: (Human) O76039
Entrez Gene ID: (Human) 6792
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