TSC complex subunit 2
Última actualización 4 de mayo de 2023
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The TSC2 gene provides instructions for producing a protein called tuberin. Within cells, tuberin interacts with a protein called hamartin, which is produced from the TSC1 gene. These two proteins help control cell growth and division (proliferation) and cell size. Proteins that normally prevent cells from growing and dividing too fast or in an uncontrolled way are known as tumour suppressors. Hamartin and tuberin carry out their tumour suppressor function by interacting with and regulating a wide variety of other proteins.
Normal function
The TSC2 gene provides instructions for producing a protein called tuberin. Within cells, tuberin interacts with a protein called hamartin, which is produced from the TSC1 gene. These two proteins help control cell growth and division (proliferation) and cell size. Proteins that normally prevent cells from growing and dividing too fast or in an uncontrolled way are known as tumour suppressors. Hamartin and tuberin carry out their tumour suppressor function by interacting with and regulating a wide variety of other proteins.
Conditions referring to this gene or chromosome
Otros nombres
PPP1R160
TSC2_HUMAN
tuberin
tuberous sclerosis 2
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Lecturas adicionales y referencias
- TSC complex subunit 2; MedlinePlus, National Library of Medicine.
- Chorianopoulos D, Stratakos G. Lymphangioleiomyomatosis and tuberous sclerosis complex. Lung. 2008 Jul-Aug;186(4):197-207. doi: 10.1007/s00408-008-9087-5. Epub 2008 Apr 12.
- Dufner Almeida LG, Nanhoe S, Zonta A, Hosseinzadeh M, Kom-Gortat R, Elfferich P, Schaaf G, Kenter A, Kummel D, Migone N, Povey S, Ekong R, Nellist M. Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings. Hum Mutat. 2020 Apr;41(4):759-773. doi: 10.1002/humu.23963. Epub 2019 Dec 19.
- Northrup H, Koenig MK, Pearson DA, Au KS. Tuberous Sclerosis Complex. 1999 Jul 13 [updated 2024 Aug 1]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1220/
- Ramlaul K, Fu W, Li H, de Martin Garrido N, He L, Trivedi M, Cui W, Aylett CHS, Wu G. Architecture of the Tuberous Sclerosis Protein Complex. J Mol Biol. 2021 Jan 22;433(2):166743. doi: 10.1016/j.jmb.2020.166743. Epub 2020 Dec 8.
- Rosengren T, Nanhoe S, de Almeida LGD, Schonewolf-Greulich B, Larsen LJ, Hey CAB, Duno M, Ek J, Risom L, Nellist M, Moller LB. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex. Sci Rep. 2020 Jun 18;10(1):9909. doi: 10.1038/s41598-020-66588-4.
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