TSC1

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Description:
Tuberous sclerosis protein 1, also known as TSC1 or hamartin, is a human protein and gene.

Function

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

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.

Interactions

TSC1 has been shown to interact with PLK1, TSC2, AKT1 and NEFL.<ref...
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