TSC1

Hamartin also known as tuberous sclerosis 1 is a is_associated_with::protein that in humans is encoded by the TSC1 is_associated_with::gene.

Function
This peripheral membrane protein was implicated as a is_associated_with::tumor suppressor. It forms a complex with is_associated_with::TSC2 that regulates is_associated_with::mTORC1 signaling and may be also involved in is_associated_with::vesicular transport and docking.

Clinical significance
Defects in this gene may cause is_associated_with::tuberous sclerosis, due to a functional impairment of the hamartin-is_associated_with::tuberin complex. Defects in TSC1 may also be a cause of focal is_associated_with::cortical dysplasia. TSC1 may be involved in protecting brain is_associated_with::neurons in the CA3 region of the is_associated_with::hippocampus from the effects of is_associated_with::stroke.

Interactions
TSC1 has been shown to interact with:
 * is_associated_with::AKT1,
 * is_associated_with::NEFL,
 * is_associated_with::PLK1, and
 * is_associated_with::TSC2.