TSC1 [Neurosurgery Wiki]

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====== TSC1 ======

Tuberous sclerosis 1 (TSC1), also known as [[Hamartin]], is a protein that in humans is encoded by the TSC1 gene.


TSC1 forms a multi-protein complex with [[TSC2]] and TBC1D7 known as the TSC complex. This complex negatively regulates mTORC1 signaling by functioning as a GTPase-activating protein (GAP) for the small GTPase Rheb, an essential activator of mTORC1. The TSC complex has been implicated as a tumor suppressor.

Defects in this gene can cause [[tuberous sclerosis]], due to a functional impairment of the TSC complex.

Defects in TSC1 may also be a cause of focal cortical dysplasia. TSC1 may be involved in protecting brain neurons in the CA3 region of the hippocampus from the effects of stroke.
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2 [[tumor suppressor]] genes: [[TSC1]] (on [[chromosome 9]]q34) codes for [[hamartin]] and [[TSC2]] (on [[chromosome 16]]p13) encodes [[tuberin]]
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Interactions
TSC1 has been shown to interact with:

AKT1,
NEFL,
PLK1, and
TSC2.