菜单 基因医生

该基因编码的蛋白是细胞周期蛋白依赖性激酶抑制剂INK4家族的成员。这种蛋白与cdk4或cdk6相互作用,阻止cdk激酶的激活,从而起到控制细胞周期g1进展的细胞生长调节器的作用。该基因的异位表达以一种与野生型rb1功能相关的方式抑制了人类细胞的生长。在基因敲除小鼠中的研究表明,该基因在调节精子发生和抑制肿瘤发生中的作用。已经报道了该基因的两个选择性剪接的转录变体,它们编码一个相同的蛋白质。[由RefSeq提供,2008年7月]
The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]

基因名:CDKN2C
别名:p18,INK4C,p18-INK4C
基因ID:1031
Chromosome:
(GRCh37)
1 Start: 51434367 End: 51440309 Strand: 
信号通路: 细胞周期 
CDKN2C 基因突变与药物