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].
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Western blot analysis on 3T3 cell lysates using anti-Phospho-Tuberin (pS939) RabMAb (TA303844), 1:10,000 dilution. Cells were either (A) untreated (B) treated with insulin.
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