Description
Product Characteristics:
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].
Subcellular location: Cytoplasm, Cell membrane
Synonyms: Tuberinphospho T927, Tuberin phospho Thr927, p-Tuberin Thr927, TSC2 Thr927, P-TSC2 Thr927, 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]