RB transcriptional corepressor 1
Última actualización 8 de mayo de 2023
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El RB1 gene provides instructions for making a protein called pRB. This protein acts as a tumour suppressor, which means that it regulates cell growth and keeps cells from dividing too fast or in an uncontrolled way. Under certain conditions, pRB stops other proteins from triggering DNA replication, the process by which DNA makes a copy of itself. Because DNA replication must occur before a cell can divide, tight regulation of this process controls cell division and helps prevent the growth of tumours. Additionally, pRB interacts with other proteins to influence cell survival, the self-destruction of cells (apoptosis), and the process by which cells mature to carry out special functions (differentiation).
Normal function
El RB1 gene provides instructions for making a protein called pRB. This protein acts as a tumour suppressor, which means that it regulates cell growth and keeps cells from dividing too fast or in an uncontrolled way. Under certain conditions, pRB stops other proteins from triggering DNA replication, the process by which DNA makes a copy of itself. Because DNA replication must occur before a cell can divide, tight regulation of this process controls cell division and helps prevent the growth of tumours. Additionally, pRB interacts with other proteins to influence cell survival, the self-destruction of cells (apoptosis), and the process by which cells mature to carry out special functions (differentiation).
Conditions referring to this gene or chromosome
Otros nombres
p105-Rb
PP110
PPP1R130
RB
RB1 gene
RB_HUMAN
retinoblastoma 1
Retinoblastoma 1 (including osteosarcoma)
Retinoblastoma-1
Retinoblastoma-associated protein
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Lecturas adicionales y referencias
- RB transcriptional corepressor 1; MedlinePlus, National Library of Medicine.
- Classon M, Harlow E. The retinoblastoma tumour suppressor in development and cancer. Nat Rev Cancer. 2002 Dec;2(12):910-7. doi: 10.1038/nrc950.
- de Andrade AF, da Hora Barbosa R, Vargas FR, Ferman S, Eisenberg AL, Fernandes L, Bonvicino CR. A molecular study of first and second RB1 mutational hits in retinoblastoma patients. Cancer Genet Cytogenet. 2006 May;167(1):43-6. doi: 10.1016/j.cancergencyto.2005.08.017.
- Du W, Pogoriler J. Retinoblastoma family genes. Oncogene. 2006 Aug 28;25(38):5190-200. doi: 10.1038/sj.onc.1209651.
- Goodrich DW. The retinoblastoma tumor-suppressor gene, the exception that proves the rule. Oncogene. 2006 Aug 28;25(38):5233-43. doi: 10.1038/sj.onc.1209616.
- Herwig S, Strauss M. The retinoblastoma protein: a master regulator of cell cycle, differentiation and apoptosis. Eur J Biochem. 1997 Jun 15;246(3):581-601. doi: 10.1111/j.1432-1033.1997.t01-2-00581.x.
- Knudsen ES, Knudsen KE. Retinoblastoma tumor suppressor: where cancer meets the cell cycle. Exp Biol Med (Maywood). 2006 Jul;231(7):1271-81. doi: 10.1177/153537020623100713.
- Korabiowska M, Ruschenburg I, Betke H, Stachura J, Schlott T, Cardo CC, Brinck U. Downregulation of the retinoblastoma gene expression in the progression of malignant melanoma. Pathobiology. 2001;69(5):274-80. doi: 10.1159/000064338.
- Leiderman YI, Kiss S, Mukai S. Molecular genetics of RB1--the retinoblastoma gene. Semin Ophthalmol. 2007 Oct-Dec;22(4):247-54. doi: 10.1080/08820530701745165.
- Liu H, Dibling B, Spike B, Dirlam A, Macleod K. New roles for the RB tumor suppressor protein. Curr Opin Genet Dev. 2004 Feb;14(1):55-64. doi: 10.1016/j.gde.2003.11.005.
- Lohmann DR, Gallie BL. Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Genet C Semin Med Genet. 2004 Aug 15;129C(1):23-8. doi: 10.1002/ajmg.c.30024.
- Richter S, Vandezande K, Chen N, Zhang K, Sutherland J, Anderson J, Han L, Panton R, Branco P, Gallie B. Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet. 2003 Feb;72(2):253-69. doi: 10.1086/345651. Epub 2002 Dec 18.
- Sampieri K, Hadjistilianou T, Mari F, Speciale C, Mencarelli MA, Cetta F, Manoukian S, Peissel B, Giachino D, Pasini B, Acquaviva A, Caporossi A, Frezzotti R, Renieri A, Bruttini M. Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. J Hum Genet. 2006;51(3):209-216. doi: 10.1007/s10038-005-0348-3. Epub 2006 Feb 4.
- Wolff EM, Liang G, Jones PA. Mechanisms of Disease: genetic and epigenetic alterations that drive bladder cancer. Nat Clin Pract Urol. 2005 Oct;2(10):502-10. doi: 10.1038/ncpuro0318.
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