TSC2

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List of terms related to TSC2

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

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.

Further reading

• Jones AC, Shyamsundar MM, Thomas MW; et al. (1999). "Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis". Am. J. Hum. Genet. 64 (5): 1305–15. PMID 10205261.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hengstschläger M (2002). "Tuberous sclerosis complex genes: from flies to human genetics". Arch. Dermatol. Res. 293 (8): 383–6. PMID 11686512.
• Hockenbery DM (2003). "Nailing down a link between tuberin and renal cysts". Am. J. Pathol. 162 (2): 369–71. PMID 12547695.
• Ramesh V (2004). "Aspects of tuberous sclerosis complex (TSC) protein function in the brain". Biochem. Soc. Trans. 31 (Pt 3): 579–83. doi:10.1042/ . PMID 12773159.
• Knowles MA, Hornigold N, Pitt E (2004). "Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours". Biochem. Soc. Trans. 31 (Pt 3): 597–602. doi:10.1042/ . PMID 12773163.CS1 maint: Multiple names: authors list (link)
• Ellisen LW (2007). "Growth control under stress: mTOR regulation through the REDD1-TSC pathway". Cell Cycle. 4 (11): 1500–02. PMID 16258273.
• Jozwiak J, Jozwiak S (2007). "Giant cells: contradiction to two-hit model of tuber formation?". Cell. Mol. Neurobiol. 27 (2): 251–61. doi:10.1007/s10571-006-9106-0. PMID 16897363.
• Cai SL, Walker CL (2007). "TSC2, a key player in tumor suppression and cystic kidney disease". Nephrol. Ther. 2 Suppl 2: S119–22. PMID 17373211.
• Urban T (2007). "[Pulmonary lymphangioleiomyomatosis with or without tuberous sclerosis]". Revue des maladies respiratoires. 24 (6): 725–40. PMID 17632432.