transforming growth factor beta receptor 1
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L TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. This receptor transmits signals from the cell surface into the cell through a process called signal transduction. Through this type of signaling, the environment outside the cell affects activities inside the cell such as stimulation of cell growth and division.
Normal function
L TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. This receptor transmits signals from the cell surface into the cell through a process called signal transduction. Through this type of signaling, the environment outside the cell affects activities inside the cell such as stimulation of cell growth and division.
To carry out its signaling function, TGF-β receptor type 1 spans the cell membrane, so that one end of the protein projects from the outer surface of the cell (the extracellular domain) and the other end remains inside the cell (the intracellular domain). A protein called TGF-β attaches (binds) to the extracellular domain of TGF-β receptor type 1, which turns on (activates) the receptor and allows it to bind to another receptor on the cell surface. These three proteins form a complex, which triggers signal transduction by activating other proteins in a signaling pathway called the TGF-β pathway.
Signals transmitted by the TGF-β receptor complex trigger various responses by the cell, including the growth and division (proliferation) of cells, the maturation of cells to carry out specific functions (differentiation), cell movement (motility), and controlled cell death (apoptosis). Because TGF-β receptor type 1 helps prevent cells from growing and dividing too rapidly or in an uncontrolled way, it can suppress the formation of tumours.
Conditions referring to this gene or chromosome
Altri nomi
serine/threonine-protein kinase receptor R4
TBR-i
TBRI
TGF-beta receptor type I
TGF-beta receptor type-1
TGF-beta type I receptor
TGFR-1
TGFR1_HUMAN
transforming growth factor beta receptor I
transforming growth factor-beta receptor type I
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Ulteriori letture e riferimenti
- transforming growth factor beta receptor 1; MedlinePlus, National Library of Medicine.
- Cardoso S, Robertson SP, Daniel PB. TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. J Recept Signal Transduct Res. 2012 Jun;32(3):150-5. doi: 10.3109/10799893.2012.664553. Epub 2012 Mar 14.
- Goudie DR, D'Alessandro M, Merriman B, Lee H, Szeverenyi I, Avery S, O'Connor BD, Nelson SF, Coats SE, Stewart A, Christie L, Pichert G, Friedel J, Hayes I, Burrows N, Whittaker S, Gerdes AM, Broesby-Olsen S, Ferguson-Smith MA, Verma C, Lunny DP, Reversade B, Lane EB. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet. 2011 Feb 27;43(4):365-9. doi: 10.1038/ng.780.
- Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695.
- Pezzini A, Del Zotto E, Giossi A, Volonghi I, Costa P, Padovani A. Transforming growth factor beta signaling perturbation in the Loeys-Dietz syndrome. Curr Med Chem. 2012;19(3):454-60. doi: 10.2174/092986712803414286.
- Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol. 2010 Nov;25(6):546-51. doi: 10.1097/HCO.0b013e32833f0220.
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