neurofibromin 1
Última actualización 18 Aug 2020
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El NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many types of cells, including nerve cells and specialized cells called oligodendrocytes and Schwann cells that surround nerves. These specialized cells form myelin sheaths, which are the fatty coverings that insulate and protect certain nerve cells.
Normal function
El NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many types of cells, including nerve cells and specialized cells called oligodendrocytes and Schwann cells that surround nerves. These specialized cells form myelin sheaths, which are the fatty coverings that insulate and protect certain nerve cells.
Neurofibromin acts as a tumour suppressor protein. Tumour suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. This protein appears to prevent cell overgrowth by turning off another protein (called ras) that stimulates cell growth and division. Other potential functions for neurofibromin are under investigation.
Conditions referring to this gene or chromosome
Otros nombres
Neurofibromatosis Type 1 Protein
Neurofibromatosis-related protein NF-1
neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
NF1 GRP
NF1 Protein
NF1-GAP-Related Protein
NF1_HUMAN
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Lecturas adicionales y referencias
- neurofibromin 1; MedlinePlus, National Library of Medicine.
- Arun D, Gutmann DH. Recent advances in neurofibromatosis type 1. Curr Opin Neurol. 2004 Apr;17(2):101-5. doi: 10.1097/00019052-200404000-00004.
- Carroll SL, Stonecypher MS. Tumor suppressor mutations and growth factor signaling in the pathogenesis of NF1-associated peripheral nerve sheath tumors. I. The role of tumor suppressor mutations. J Neuropathol Exp Neurol. 2004 Nov;63(11):1115-23. doi: 10.1093/jnen/63.11.1115.
- Carroll SL, Stonecypher MS. Tumor suppressor mutations and growth factor signaling in the pathogenesis of NF1-associated peripheral nerve sheath tumors: II. The role of dysregulated growth factor signaling. J Neuropathol Exp Neurol. 2005 Jan;64(1):1-9. doi: 10.1093/jnen/64.1.1.
- Cooper LJ, Shannon KM, Loken MR, Weaver M, Stephens K, Sievers EL. Evidence that juvenile myelomonocytic leukemia can arise from a pluripotential stem cell. Blood. 2000 Sep 15;96(6):2310-3.
- Dasgupta B, Gutmann DH. Neurofibromatosis 1: closing the GAP between mice and men. Curr Opin Genet Dev. 2003 Feb;13(1):20-7. doi: 10.1016/s0959-437x(02)00015-1.
- Gutmann DH. Neurofibromin in the brain. J Child Neurol. 2002 Aug;17(8):592-601; discussion 602-4, 646-51. doi: 10.1177/088307380201700809.
- Gutzmer R, Herbst RA, Mommert S, Kiehl P, Matiaske F, Rutten A, Kapp A, Weiss J. Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma. Hum Genet. 2000 Oct;107(4):357-61. doi: 10.1007/s004390000374.
- Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner VF. NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. Hum Mutat. 2002 Mar;19(3):309. doi: 10.1002/humu.9018.
- Korf BR. Clinical features and pathobiology of neurofibromatosis 1. J Child Neurol. 2002 Aug;17(8):573-7; discussion 602-4, 646-51. doi: 10.1177/088307380201700806.
- Korf BR. Malignancy in neurofibromatosis type 1. Oncologist. 2000;5(6):477-85. doi: 10.1634/theoncologist.5-6-477.
- Lauchle JO, Braun BS, Loh ML, Shannon K. Inherited predispositions and hyperactive Ras in myeloid leukemogenesis. Pediatr Blood Cancer. 2006 May 1;46(5):579-85. doi: 10.1002/pbc.20644.
- Packer RJ, Gutmann DH, Rubenstein A, Viskochil D, Zimmerman RA, Vezina G, Small J, Korf B. Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology. 2002 May 28;58(10):1461-70. doi: 10.1212/wnl.58.10.1461.
- Reed N, Gutmann DH. Tumorigenesis in neurofibromatosis: new insights and potential therapies. Trends Mol Med. 2001 Apr;7(4):157-62. doi: 10.1016/s1471-4914(01)01955-4.
- Trovo-Marqui AB, Tajara EH. Neurofibromin: a general outlook. Clin Genet. 2006 Jul;70(1):1-13. doi: 10.1111/j.1399-0004.2006.00639.x.
- Viskochil DH. It takes two to tango: mast cell and Schwann cell interactions in neurofibromas. J Clin Invest. 2003 Dec;112(12):1791-3. doi: 10.1172/JCI20503.
- Ward BA, Gutmann DH. Neurofibromatosis 1: from lab bench to clinic. Pediatr Neurol. 2005 Apr;32(4):221-8. doi: 10.1016/j.pediatrneurol.2004.11.002.
- Yang FC, Ingram DA, Chen S, Hingtgen CM, Ratner N, Monk KR, Clegg T, White H, Mead L, Wenning MJ, Williams DA, Kapur R, Atkinson SJ, Clapp DW. Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells. J Clin Invest. 2003 Dec;112(12):1851-61. doi: 10.1172/JCI19195.
- Yohay KH. The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 2006 Mar;13(1):21-6. doi: 10.1016/j.spen.2006.01.007.
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