TSC2

Tuberous sclerosis protein 2, also known as TSC2 and Tuberin, is a human protein and gene.

PBB_Summary
section_title =
summary_text = Mutations in this gene lead to tuberous sclerosis. 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 of the protein. [cite web | title = Entrez Gene: TSC2 tuberous sclerosis 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7249| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Jones AC, Shyamsundar MM, Thomas MW, "et al." |title=Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. |journal=Am. J. Hum. Genet. |volume=64 |issue= 5 |pages= 1305–15 |year= 1999 |pmid= 10205261 |doi=
*cite journal | author=Hengstschläger M |title=Tuberous sclerosis complex genes: from flies to human genetics. |journal=Arch. Dermatol. Res. |volume=293 |issue= 8 |pages= 383–6 |year= 2002 |pmid= 11686512 |doi=
*cite journal | author=Hockenbery DM |title=Nailing down a link between tuberin and renal cysts. |journal=Am. J. Pathol. |volume=162 |issue= 2 |pages= 369–71 |year= 2003 |pmid= 12547695 |doi=
*cite journal | author=Ramesh V |title=Aspects of tuberous sclerosis complex (TSC) protein function in the brain. |journal=Biochem. Soc. Trans. |volume=31 |issue= Pt 3 |pages= 579–83 |year= 2004 |pmid= 12773159 |doi= 10.1042/
*cite journal | author=Knowles MA, Hornigold N, Pitt E |title=Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours. |journal=Biochem. Soc. Trans. |volume=31 |issue= Pt 3 |pages= 597–602 |year= 2004 |pmid= 12773163 |doi= 10.1042/
*cite journal | author=Ellisen LW |title=Growth control under stress: mTOR regulation through the REDD1-TSC pathway. |journal=Cell Cycle |volume=4 |issue= 11 |pages= 1500–02 |year= 2007 |pmid= 16258273 |doi=
*cite journal | author=Jozwiak J, Jozwiak S |title=Giant cells: contradiction to two-hit model of tuber formation? |journal=Cell. Mol. Neurobiol. |volume=27 |issue= 2 |pages= 251–61 |year= 2007 |pmid= 16897363 |doi= 10.1007/s10571-006-9106-0
*cite journal | author=Cai SL, Walker CL |title=TSC2, a key player in tumor suppression and cystic kidney disease. |journal=Nephrol. Ther. |volume=2 Suppl 2 |issue= |pages= S119–22 |year= 2007 |pmid= 17373211 |doi=
*cite journal | author=Urban T |title= [Pulmonary lymphangioleiomyomatosis with or without tuberous sclerosis] |journal=Revue des maladies respiratoires |volume=24 |issue= 6 |pages= 725–40 |year= 2007 |pmid= 17632432 |doi=

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