TSC complex subunit 1
Última actualización 4 de mayo de 2023
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The TSC1 gene provides instructions for producing a protein called hamartin. Within cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 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 TSC1 gene provides instructions for producing a protein called hamartin. Within cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 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
hamartin
KIAA0243
TSC1_HUMAN
tuberous sclerosis 1
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Lecturas adicionales y referencias
- TSC complex subunit 1; MedlinePlus, National Library of Medicine.
- Mallela K, Kumar A. Role of TSC1 in physiology and diseases. Mol Cell Biochem. 2021 Jun;476(6):2269-2282. doi: 10.1007/s11010-021-04088-3. Epub 2021 Feb 11.
- Martignoni G, Pea M, Reghellin D, Gobbo S, Zamboni G, Chilosi M, Bonetti F. Molecular pathology of lymphangioleiomyomatosis and other perivascular epithelioid cell tumors. Arch Pathol Lab Med. 2010 Jan;134(1):33-40. doi: 10.5858/2008-0542-RAR1.1.
- Meng Y, Yu C, Chen M, Yu X, Sun M, Yan H, Zhao W, Yu S. Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex. J Hum Genet. 2021 Mar;66(3):227-236. doi: 10.1038/s10038-020-00839-0. Epub 2020 Sep 11.
- 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.
- Tian X, Glass JE, Kwiatkowski DJ, Towbin AJ, Li Y, Sund KL, Krueger DA, Franz DN, McCormack FX, Gupta N. Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex. Ann Am Thorac Soc. 2021 May;18(5):815-819. doi: 10.1513/AnnalsATS.202008-911OC.
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