neurofibromin 1
آخر تحديث 18 Aug 2020
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ال 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
ال 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
Other names
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
Related patient information and medicines
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التهاب الشرايين ذو الخلايا العملاقة
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Patient information leaflet
متلازمة جيلبرت
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Patient information leaflet
فحص متلازمة داون
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قراءة إضافية ومراجع
- neurofibromin 1; MedlinePlus, National Library of Medicine.
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- 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.
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- 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.
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- 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.
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تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 Mar 2007 | نُشر في الأصل
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