Q92574

Hamartin also known as TSC1 is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. Hamartin plays a crucial role in the regulation of cell growth and proliferation, particularly through interaction with tuberin to form a cytoplasmic complex essential for proper functioning of the mTOR signaling pathway. This pathway is vital for cellular processes such as protein synthesis, autophagy, and metabolism, and dysregulation is implicated in various diseases, including cancer and tuberous sclerosis complex. Hamartin expression in most adult tissues, especially in the brain, heart, and kidney, highlights importance in maintaining tissue homeostasis and function.