NF2, moesin-ezrin-radixin like (MERLIN) tumour suppressor
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A NF2 gene provides instructions for the production of a protein called merlin, also known as schwannomin. This protein is made in the nervous system, particularly in specialized cells called Schwann cells that wrap around and insulate nerves.
Normal function
A NF2 gene provides instructions for the production of a protein called merlin, also known as schwannomin. This protein is made in the nervous system, particularly in specialized cells called Schwann cells that wrap around and insulate nerves.
Merlin helps regulate several key signaling pathways that are important for controlling cell shape, cell growth, and the attachment of cells to one another (cell adhesion). This protein functions as a tumour suppressor, preventing cells from growing and dividing too fast or in an uncontrolled way.
Conditions referring to this gene or chromosome
Other names
ACN
BANF
MERL_HUMAN
merlin
moesin-ezrin-radixin-like protein
SCH
schwannomerlin
schwannomin
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Leitura adicional e referências
- NF2, moesin-ezrin-radixin like (MERLIN) tumour suppressor; MedlinePlus, National Library of Medicine.
- Ahronowitz I, Xin W, Kiely R, Sims K, MacCollin M, Nunes FP. Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. Hum Mutat. 2007 Jan;28(1):1-12. doi: 10.1002/humu.20393.
- Cooper J, Giancotti FG. Molecular insights into NF2/Merlin tumor suppressor function. FEBS Lett. 2014 Aug 19;588(16):2743-52. doi: 10.1016/j.febslet.2014.04.001. Epub 2014 Apr 12.
- Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DG. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008 Jun;45(6):332-9. doi: 10.1136/jmg.2007.056499. Epub 2008 Feb 19.
- MacCollin M, Willett C, Heinrich B, Jacoby LB, Acierno JS Jr, Perry A, Louis DN. Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology. 2003 Jun 24;60(12):1968-74. doi: 10.1212/01.wnl.0000070184.08740.e0.
- Petrilli AM, Fernandez-Valle C. Role of Merlin/NF2 inactivation in tumor biology. Oncogene. 2016 Feb 4;35(5):537-48. doi: 10.1038/onc.2015.125. Epub 2015 Apr 20.
- Schroeder RD, Angelo LS, Kurzrock R. NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. Oncotarget. 2014 Jan 15;5(1):67-77. doi: 10.18632/oncotarget.1557.
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