TSC2
| View/Edit Human | View/Edit Mouse |
Tuberous sclerosis complex 2 (TSC2), also known as tuberin, is a protein that in humans is encoded by the TSC2 gene.
Function
Mutations in this gene lead to
isoforms of the protein.[6] Mutations in TSC2 can cause Lymphangioleiomyomatosis, a disease caused by the enlargement of tissue in the lungs, creating cysts and tumours and causing difficulty breathing. Because tuberin regulates cell size, along with the protein hamartin, mutations to TSC1 and TSC2 genes may prevent the control of cell growth in the lungs of individuals.[5]
Cell pathology
Cells from individuals with pathogenic mutations in the TSC2 gene display depletion of
Signaling pathways
Pharmacological inhibition of
GSK3β activity and protein synthesis levels in a model of tuberous sclerosis.[8]
The defective degradation of glycogen by the autophagy-lysosome pathway is, at least in part, independent of impaired regulation of mTORC1 and is restored by the combined use of PKB/Akt and mTORC1 pharmacological inhibitors.[7]
Interactions
TSC2 functions within a multi-protein complex known as the TSC complex which consists of the core proteins TSC2, TSC1,[9][10] and TBC1D7.
TSC2 has been reported to
interact
with several other proteins that are not a part of the TSC complex including:
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000103197 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002496 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ PMID 29127155.
- ^ "Entrez Gene: TSC2 tuberous sclerosis 2".
- ^ PMID 30728291.
- PMID 28646232.
- PMID 20146692.
- PMID 15340059.
- PMID 12167664.
- ^ PMID 15342917.
- ^ PMID 12511557.
- ^ PMID 17077083.
- S2CID 16047397.
- S2CID 18663447.
- PMID 17043358.
- PMID 14559897.
- S2CID 18173817.
- PMID 15261145.
- ^ PMID 12842888.
- PMID 12147258.
- PMID 12869586.
- PMID 12820960.
- S2CID 13451385.
- S2CID 3078706.
- PMID 15757502.
- PMID 15175323.
- S2CID 25851829.
- PMID 12176984.
Further reading
- Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP (May 1999). "Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis". American Journal of Human Genetics. 64 (5): 1305–15. PMID 10205261.
- Hengstschläger M (August 2001). "Tuberous sclerosis complex genes: from flies to human genetics". Archives of Dermatological Research. 293 (8): 383–6. S2CID 35702323.
- Hockenbery DM (February 2003). "Nailing down a link between tuberin and renal cysts". The American Journal of Pathology. 162 (2): 369–71. PMID 12547695.
- Ramesh V (June 2003). "Aspects of tuberous sclerosis complex (TSC) protein function in the brain". Biochemical Society Transactions. 31 (Pt 3): 579–83. PMID 12773159.
- Knowles MA, Hornigold N, Pitt E (June 2003). "Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours". Biochemical Society Transactions. 31 (Pt 3): 597–602. PMID 12773163.
- Ellisen LW (November 2005). "Growth control under stress: mTOR regulation through the REDD1-TSC pathway". Cell Cycle. 4 (11): 1500–02. PMID 16258273.
- Jozwiak J, Jozwiak S (March 2007). "Giant cells: contradiction to two-hit model of tuber formation?". Cellular and Molecular Neurobiology. 27 (2): 251–61. S2CID 31624726.
- Cai SL, Walker CL (January 2006). "TSC2, a key player in tumor suppression and cystic kidney disease". Nephrologie & Therapeutique. 2 (Suppl 2): S119-22. PMID 17373211.
- Urban T (June 2007). "[Pulmonary lymphangioleiomyomatosis with or without tuberous sclerosis]". Revue des Maladies Respiratoires. 24 (6): 725–40. PMID 17632432.