菜单 基因医生

该基因编码的蛋白是ser/thr蛋白磷酸酶pp2c家族的成员。pp2c家族成员是细胞应激反应途径的负调控因子。该基因的表达在不同的环境胁迫下以p53依赖的方式诱导。在肿瘤抑制蛋白tp53/p53诱导下,这种磷酸酶负性调节p38-map激酶mapk/p38的活性,从而降低p53的磷酸化,进而抑制p53介导的转录和凋亡。因此,这种磷酸酶介导p38-p53信号的反馈调节,有助于生长抑制和抑制应激诱导的凋亡。该基因位于已知在乳腺癌中被扩增的染色体区域。在乳腺癌细胞系和原发性乳腺肿瘤中都检测到该基因的扩增,这表明该基因在乳腺癌的发生发展中起着一定的作用。[由RefSeq提供,2008年7月]
The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]

基因名:PPM1D
别名:JDVS,WIP1,IDDGIP,PP2C-DELTA
基因ID:8493
Chromosome:
(GRCh37)
17 Start: 58677544 End: 58743641 Strand: 
信号通路:  
PPM1D 基因突变与药物