A portion of amino acids 1776-1805 from the human protein was used as the immunogen for this Tuberin antibody.
Mutations in TSC2 lead to tuberous sclerosis complex. This protein is believed to be a tumor suppressor and is able to specifically stimulate the intrinsic GTPase activity of the Ras-related protein RAP1A and RAB5. TSC2 associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. It may have a function in vesicular transport, but may also play a role in the regulation of cell growth arrest and in the regulation of transcription mediated by steroid receptors. Interaction between TSC1 and TSC2 may facilitate vesicular docking.