菜单 基因医生

该基因编码cdk5（细胞周期蛋白依赖激酶5）活性的调节因子。该基因编码的蛋白定位于中心体和高尔基体复合体，与CDK5R1和周向心蛋白（PCNT）相互作用，参与中心粒的结合和微管的成核，并与原发性小头症和阿尔茨海默病有关选择性剪接导致多个转录变体[由RefSeq提供，2013年1月]
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]