菜单 基因医生

该基因编码一种蛋白质,在细胞核和中心体的微管依赖性结合中发挥作用。小鼠体内一种类似的蛋白质在神经前体细胞核运动的特征性模式——核运动的相互作用和神经前体的自我更新中都起作用这种基因的突变被预测会导致神经源性缺陷选择性剪接导致多个转录变体[由RefSeq提供,2009年10月]
This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

基因名:CEP120
别名:JBTS31,SRTD13,CCDC100
基因ID:153241
Chromosome:
(GRCh37)
5 Start: 122680579 End: 122759286 Strand: 
信号通路:  
CEP120 基因突变与药物