TSC1

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

Function

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

Clinical significance

Defects in this gene may cause tuberous sclerosis, due to a functional impairment of the hamartin-tuberin 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.

Interactions

TSC1 has been shown to interact with:

See also

References

Further reading

External links