Overview:

STK9 or CDKL5 is a member of Ser/Thr protein kinase family which has protein kinase activity and is associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). STK9 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 (1). The mutations in the STK9 is a major cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder (2).

Gene Aliases:

CDKL5; EIEE2; ISSX

Genbank Number:

NM_003159

References:

1. Ricciardi, S. et.al: CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. Hum. Molec. Genet. 18: 4590-4602, 2009.

2. Archer, H. L. et.al: CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J. Med. Genet. 43: 729-734, 2006.