ret proto-oncogene
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L RET gene provides instructions for producing a protein that is involved in signaling within cells. This protein appears to be essential for the normal development of several kinds of nerve cells, including nerves in the intestine (enteric neurons) and the portion of the nervous system that controls involuntary body functions such as heart rate (the autonomic nervous system). The RET protein is also necessary for normal kidney development and the production of sperm (spermatogenesis).
Normal function
L RET gene provides instructions for producing a protein that is involved in signaling within cells. This protein appears to be essential for the normal development of several kinds of nerve cells, including nerves in the intestine (enteric neurons) and the portion of the nervous system that controls involuntary body functions such as heart rate (the autonomic nervous system). The RET protein is also necessary for normal kidney development and the production of sperm (spermatogenesis).
The RET protein spans the cell membrane, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning of the protein allows it to interact with specific factors outside the cell and to receive signals that help the cell respond to its environment. When molecules that stimulate growth and development (growth factors) attach to the RET protein, a complex cascade of chemical reactions inside the cell is triggered. These reactions instruct the cell to undergo certain changes, such as dividing or maturing to take on specialized functions.
Conditions referring to this gene or chromosome
Altri nomi
cadherin family member 12
cadherin-related family member 16
CDHF12
CDHR16
HSCR1
hydroxyaryl-protein kinase
MEN2A
MEN2B
MTC1
PTC
rearranged during transfection
ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)
RET-ELE1
RET/PTC
RET51
RET_HUMAN
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Ulteriori letture e riferimenti
- ret proto-oncogene; MedlinePlus, National Library of Medicine.
- Alberti L, Carniti C, Miranda C, Roccato E, Pierotti MA. RET and NTRK1 proto-oncogenes in human diseases. J Cell Physiol. 2003 May;195(2):168-86. doi: 10.1002/jcp.10252.
- Arighi E, Borrello MG, Sariola H. RET tyrosine kinase signaling in development and cancer. Cytokine Growth Factor Rev. 2005 Aug-Oct;16(4-5):441-67. doi: 10.1016/j.cytogfr.2005.05.010.
- Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell. 1994 Dec 30;79(7):1277-85. doi: 10.1016/0092-8674(94)90018-3.
- Burnichon N, Vescovo L, Amar L, Libe R, de Reynies A, Venisse A, Jouanno E, Laurendeau I, Parfait B, Bertherat J, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet. 2011 Oct 15;20(20):3974-85. doi: 10.1093/hmg/ddr324. Epub 2011 Jul 22.
- Chatterjee S, Kapoor A, Akiyama JA, Auer DR, Lee D, Gabriel S, Berrios C, Pennacchio LA, Chakravarti A. Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease. Cell. 2016 Oct 6;167(2):355-368.e10. doi: 10.1016/j.cell.2016.09.005. Epub 2016 Sep 29.
- Eng C, Plitt G. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27 [updated 2023 Aug 10]. 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/NBK1257/
- Ichihara M, Murakumo Y, Takahashi M. RET and neuroendocrine tumors. Cancer Lett. 2004 Feb 20;204(2):197-211. doi: 10.1016/S0304-3835(03)00456-7.
- Koch CA. Molecular pathogenesis of MEN2-associated tumors. Fam Cancer. 2005;4(1):3-7. doi: 10.1007/s10689-004-7022-3.
- Kouvaraki MA, Shapiro SE, Perrier ND, Cote GJ, Gagel RF, Hoff AO, Sherman SI, Lee JE, Evans DB. RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid. 2005 Jun;15(6):531-44. doi: 10.1089/thy.2005.15.531.
- Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer. 2005 May;5(5):367-75. doi: 10.1038/nrc1610.
- Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C, Eng C; Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002 May 9;346(19):1459-66. doi: 10.1056/NEJMoa020152.
- Panta GR, Du L, Nwariaku FE, Kim LT. Direct phosphorylation of proliferative and survival pathway proteins by RET. Surgery. 2005 Aug;138(2):269-74. doi: 10.1016/j.surg.2005.04.007.
- Putzer BM, Drosten M. The RET proto-oncogene: a potential target for molecular cancer therapy. Trends Mol Med. 2004 Jul;10(7):351-7. doi: 10.1016/j.molmed.2004.06.002.
- Santoro M, Carlomagno F, Melillo RM, Fusco A. Dysfunction of the RET receptor in human cancer. Cell Mol Life Sci. 2004 Dec;61(23):2954-64. doi: 10.1007/s00018-004-4276-8.
- Tomuschat C, Puri P. RET gene is a major risk factor for Hirschsprung's disease: a meta-analysis. Pediatr Surg Int. 2015 Aug;31(8):701-10. doi: 10.1007/s00383-015-3731-y. Epub 2015 Jul 12.
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