PPM1D Human

The PPM1D gene is located on chromosome 17q23.2 and encodes a protein that is involved in various cellular processes. The protein is characterized by its dependence on magnesium (Mg²⁺) or manganese (Mn²⁺) ions for its phosphatase activity .

PPM1D plays a crucial role in the negative regulation of the p53 tumor suppressor pathway. The expression of PPM1D is induced in a p53-dependent manner in response to various environmental stresses. Once expressed, PPM1D dephosphorylates and inactivates p38 MAP kinase (MAPK/p38), which in turn reduces the phosphorylation of p53. This feedback loop helps to suppress p53-mediated transcription and apoptosis, thereby contributing to growth inhibition and the suppression of stress-induced apoptosis .

The PPM1D gene is located in a chromosomal region that is often amplified in breast cancer. Amplification of this gene has been detected in both breast cancer cell lines and primary breast tumors, suggesting a role in cancer development. Additionally, mutations in PPM1D have been associated with Jansen-De Vries Syndrome, a rare genetic disorder .

Recombinant human PPM1D is widely used in research to study its role in cell cycle regulation, stress response, and cancer development. Understanding the function and regulation of PPM1D can provide insights into potential therapeutic targets for cancer treatment and other diseases associated with cell stress response pathways .