Anti-Tuberin (phospho T1462) antibody [EPR1060(2)] - BSA and Azide free

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Tuberin also known as TSC2 is a tumor suppressor protein with a role in cell growth regulation. It has a molecular mass of approximately 200 kDa. This protein forms a critical component of the TSC1-TSC2 complex and is expressed widely in various tissues including the brain kidney heart and skin. Tuberin possesses GTPase-activating protein (GAP) activity targeting specifically the small GTPase protein Rheb which leads to inhibition of the mammalian target of rapamycin complex 1 (mTORC1).

Biological function summary

Tuberin helps control cell size and proliferation. It does this by modulating the mTOR signaling pathway. This modulation is essential for maintaining cellular homeostasis and energy balance particularly under conditions of nutrient scarcity. Tuberin as part of the TSC1-TSC2 complex also influences cell cycle progression and protein synthesis. Its functions are vital in preventing abnormal cell growth and division which is particularly important in organs where rapid cell turnover occurs.

Pathways

Tuberin plays a central role in the mTOR signaling pathway which affects cell growth autophagy and metabolism. It directly interacts with hamartin (TSC1) to form the TSC1-TSC2 complex which regulates Rheb activity. By inhibiting Rheb Tuberin helps control the mTORC1 pathway linking it to signals such as growth factors stress energy status and amino acid availability. This coordination is important for the proper balance between cell growth and catabolism.

Associated diseases and disorders

Tuberin is mainly associated with Tuberous Sclerosis Complex (TSC) and certain forms of epilepsy. Mutations or loss of function in TSC2 can lead to benign tumor formations in multiple organs including the brain kidneys and skin. It is also implicated in the development of lymphangioleiomyomatosis (LAM) a rare lung disease. Tuberin's interaction with mTORC1 highlights its connection with these conditions as hyperactivation of the mTOR pathway contributes significantly to the pathogenesis.