neurofibromin 1
Last updated 18 Aug 2020
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
The 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
The 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
Patient information leaflet
Travelling to remote locations
It is so that if you seek medical help from doctors and nurses in the country where you are travelling, they can advise you wha... Self-treatment is a last resort as it is very difficult for anyone to make treatment decisions about themselves. Reference book Pocket First Aid and Wilderness Medicine: Drs Jim Duff and Peter Gormly (2010). This is an.
Patient information leaflet
Giant Cell Arteritis
One of the arteries that is commonly affected is the temporal artery. (You have a temporal artery on each side of your head. They lie under the skin to the sides of the forehead - the temple area - and supply blood to this area). This is why the condition is also called temporal arteritis. Giant cell arteritis (temporal arteritis) causes No one.
Patient information leaflet
Type 2 diabetes treatment
If any of the above risk factors apply to you: If you are not currently on glucose-lowering treatment, your doctor will usually recommend you start taking metformin first. As soon as you are settled on metformin (and don't have significant side-effects), they will add the SGLT-2 inhibitor. If you are already taking metformin, your doctor should.
Patient information leaflet
Wilson's disease
Wilson's disease is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further build-up of copper. What is Wilson's disease. Wilson's disease is a condition.
Patient information leaflet
Gilbert's syndrome
Gilbert's syndrome is due to an inherited defect in processing bilirubin in the liver. Bilirubin is produced from the breakdown of red blood cells. When it cannot be cleared properly in the liver, its levels build up in the blood. What is Gilbert's syndrome. Gilbert's syndrome - also known as constitutional hepatic dysfunction - is a condition.
Patient information leaflet
Down's syndrome screening
There are two different types of tests that can be done to look for Down's syndrome during pregnancy - a screening test and a diagnostic test. What is Down's syndrome. Down's syndrome is a genetic chromosome problem that some people are born with. A person with Down's syndrome can usually be recognised by their typical features. It can also cause.
Further reading and references
- 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.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.