transforming growth factor beta 3
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L TGFB3 gene provides instructions for producing a protein called transforming growth factor beta-3 (TGFβ-3). This protein is found throughout the body and is required for development before birth and throughout life. To carry out its functions, TGFβ-3 attaches (binds) to receptor proteins on the surface of cells. This binding triggers the transmission of signals within the cell, controlling various cellular activities. As part of a signaling pathway, called the TGF-β pathway, the TGFβ-3 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and controlled cell death (apoptosis). Because the TGFβ-3 protein keeps cells from growing and dividing too rapidly or in an uncontrolled way, it can suppress the formation of tumours.
Normal function
L TGFB3 gene provides instructions for producing a protein called transforming growth factor beta-3 (TGFβ-3). This protein is found throughout the body and is required for development before birth and throughout life. To carry out its functions, TGFβ-3 attaches (binds) to receptor proteins on the surface of cells. This binding triggers the transmission of signals within the cell, controlling various cellular activities. As part of a signaling pathway, called the TGF-β pathway, the TGFβ-3 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and controlled cell death (apoptosis). Because the TGFβ-3 protein keeps cells from growing and dividing too rapidly or in an uncontrolled way, it can suppress the formation of tumours.
The TGFβ-3 protein is especially abundant in tissues that develop into the muscles used for movement (skeletal muscles), and plays a key role in their development. The protein is also involved in the formation of blood vessels, regulation of bone growth, wound healing, and immune system function.
Conditions referring to this gene or chromosome
Altri nomi
RNHF
TGF beta 3
TGF-beta3
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Ulteriori letture e riferimenti
- transforming growth factor beta 3; MedlinePlus, National Library of Medicine.
- Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL. Mutations in a TGF-beta ligand, TGFB3, cause syndromic aortic aneurysms and dissections. J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040.
- Matyas G, Naef P, Tollens M, Oexle K. De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. Am J Med Genet A. 2014 Aug;164A(8):2141-3. doi: 10.1002/ajmg.a.36593. Epub 2014 May 5. No abstract available.
- Rienhoff HY Jr, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. Am J Med Genet A. 2013 Aug;161A(8):2040-6. doi: 10.1002/ajmg.a.36056. Epub 2013 Jul 3.
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