PTEN (gene)
- OMIM: 601728
- UniProt: P60484
- MGI: 109583
Phosphatase PTEN ( phosphatase and tensin homolog ) is a multifunctional enzyme in eukaryotes. It catalyzes the hydrolysis of various phosphoric acid esters ( phospholipids and phosphoproteins ). In particular, the signal-transducing molecules PIP3, PIP2, PIP1, Ins ( 1,3,4,5 ) P4 and AKT1 substrates of PTEN. Through these operations in physical signal paths PTEN is a part of the signal transduction. In the normal cell condition, the activity of the phosphatase PTEN by TGF- β is suppressed. Characterized the cell death is inhibited. Unsuppressed PTEN acts through induction of cell death as a tumor suppressor. Mutations in the PTEN gene and thus defects in the PTEN enzyme can by uncontrolled cell proliferation promote a variety of tumors and cause disease.
Function
Activated by dephosphorylation of PTEN interrupts Phosphatidylinositolphosphaten the PI3K-AKT/PKB-Signalweg. It inhibits the phosphorylation of Shc and interrupts the MAP kinase signaling pathway. It dephosphorylated FAK and thus interrupts further signal paths, with the result that cell migration and cell division can be prevented.
PTEN hamartoma tumor syndrome
The problems caused by defects in PTEN rare hereditary diseases are grouped as PTEN hamartoma tumor syndrome and include a set of overlapping heterogeneous syndromes have an autosomal dominant PTEN mutation. Due to an incomplete and age-dependent penetrance and varying degrees of gene expression show the clinical picture of a very large symptom heterogeneity. In addition, the previously known mutations are scattered over the entire gene, which was also blamed for the heterogeneity. Be expected to do this:
- Cowden syndrome
- Lhermitte -Duclos syndrome
- Ruvalcaba - Myhre -Smith syndrome
- Proteus syndrome
- Family oligodendroglioma.
In the presence of PTEN mutation tumors such as endometrial cancer and prostate cancer are favored.