|TSC2||Oncogenic Mutations||MUT||Perivascular Epithelioid Cell Tumor||ABI-009||II||2|
Gene name Full name
TSC complex subunit 2Gene type
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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Sorry, there is no related drug information.