Gene:
tuberous sclerosis 2
Gene ID:
198825
Symbol:
TSC2
Species:
1000
Description:
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Three splice variants for this gene exist, producing three different isoforms of the protein.