基因名:
CDKL5
产品别名:
CFAP247; DEE2; EIEE2; ISSX; STK9; CDKL5; cyclin dependent kinase like 5; cyclin dependent kinase like 5; cyclin-dependent kinase-like 5; cyclin dependent kinase 5 transcript; serine/threonine kinase 9; serine/threonine-protein kinase 9; 周期素依赖性激酶样5;
背景信息:
Cell cycle progression is controlled in part by a family of cyclin proteins and cyclin-dependent kinases (Cdks). Cdk proteins work in concert with the cyclins to phosphorylate key substrates involved in each phase of cell cycle progression. Another family of proteins, Cdk inhibitors, also plays a role in regulating the cell cycle by binding to cyclin-Cdk complexes and modulating their activity. CDKL5 (cyclin-dependent kinase-like 5) is a 1030 amino acid protein that belongs to the CMGC Ser/Thr protein kinase family. Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis, CDKL5 is thought to play a role in cell cycle regulation. Defects in CDKL5 are a cause of several disorders, such as X-linked infantile spasm syndrome and Rett syndrome.