TSC1

• OMIM: 605 ​​284
• UniProt: Q92574

Hamartin ( TSC1 ) is a protein found in vertebrates, which acts as a tumor suppressor. For this function, the formation of the hamartin - tuberin complex is necessary, which can be disturbed by various defects in humans, for example, by mutation of the TSC1 gene. Inability to form the complex is the cause of tuberous sclerosis, a genetic disease.

The TSC1 - TSC2 complex inhibits the phosphorylation of S6 kinase by binding to mTOR, thus inhibiting the mTOR signaling pathway. TSC1 - TSC2 loss leads to resistance to Aminosäureaushungerung, that is, TSC1 - TSC2 defective protein synthesis will continue to operate even when amino acid starvation. The TSC1 - TSC2 caused by deficiency kidney cysts are, however, not formed via the mTOR pathway.