Description
Product Characteristics:
Tuberin, or TSC2 (Tuberous sclerosis complex), is implicated as a tumor suppressor. It may function in vesicular transport, and may also play a role in the regulation of cell growth arrest and in the regulation of transcription mediated by steroid receptors. Interaction between hamartin (TSC1) and tuberin may facilitate vesicular docking. It specifically stimulates the intrinsic GTPase activity of the Ras related protein RAP1A and RAB5, suggesting a possible mechanism for its role in regulating cellular growth. Mutations in tuberin lead to constitutive activation of RAP1A in tumors. At least three isoforms of Tuberin exist.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: Tuberinphospho S1387, Tuberin phospho Ser1387, p-Tuberin Ser1387,TSC2 Ser1387, P-TSC2 Ser1387,FLJ43106, LAM, OTTHUMP00000158940, OTTHUMP00000198394, OTTHUMP00000198395, TSC2, TSC2_HUMAN, TSC4, Tuberin, Tuberous sclerosis 2, Tuberous sclerosis 2 protein, Tuberous sclerosis 2 protein homolog.
Target Information: 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]