Neurofibromin 1
Neurofibromin 1 (NF1) is a gene in humans that is located on chromosome 17. NF1 codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP. NF1 has a high mutation rate and mutations in NF1 can alter cellular growth control, and neural development, resulting in neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome). Symptoms of NF1 include disfiguring cutaneous neurofibromas (CNF), café au lait pigment spots, plexiform neurofibromas (PN), skeletal defects, optic nerve gliomas, life-threatening malignant peripheral nerve sheath tumors (MPNST), pheochromocytoma, attention deficits, learning deficits and other cognitive disabilities.
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APOBEC1Adenocarcinoma of the lungAmita SehgalAnaplastic lymphoma kinaseApolipoprotein BChromosome 17Conditions comorbid to autism spectrum disordersDavid H. GutmannGTPase-activator protein for Ras-like GTPaseGlioblastomaList of MeSH codes (D12.644)List of MeSH codes (D12.776)List of MeSH codes (D12.776.476)List of OMIM disorder codesList of human protein-coding genes 3MelanomaNF1NF1 (gene)NF1 (protein)NeurofibromaNeurofibromatosisNeurofibromatosis type INeurofibrominNf1Osteofibrous dysplasiaParagangliomaPheochromocytomaPioneer factorPoint mutationRas GTPaseSPRED1SPRY1SPRY2SelumetinibSquamous-cell carcinoma of the lungTumor suppressor geneVRNFWatson syndrome
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Neurofibromin 1
Neurofibromin 1 (NF1) is a gene in humans that is located on chromosome 17. NF1 codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP. NF1 has a high mutation rate and mutations in NF1 can alter cellular growth control, and neural development, resulting in neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome). Symptoms of NF1 include disfiguring cutaneous neurofibromas (CNF), café au lait pigment spots, plexiform neurofibromas (PN), skeletal defects, optic nerve gliomas, life-threatening malignant peripheral nerve sheath tumors (MPNST), pheochromocytoma, attention deficits, learning deficits and other cognitive disabilities.
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La neurofibromina 1 è una prot ...... DP e quindi di inattivare Ras.
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La neurofibromine 1 est une pr ...... é sur le chromosome 17 humain.
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NF1 (англ. Neurofibromin 1) – ...... іпідами. Локалізований у ядрі.
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Neurofibromin 1 (NF1) is a gen ...... other cognitive disabilities.
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Neurofibromina 1 (neurofibromi ...... (chorobę von Recklinghausena).
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Нейрофибромин — (англ. Neurofi ...... ейрофиброматозом первого типа.
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1,016,527,682
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La neurofibromina 1 è una prot ...... DP e quindi di inattivare Ras.
@it
La neurofibromine 1 est une pr ...... é sur le chromosome 17 humain.
@fr
NF1 (англ. Neurofibromin 1) – ...... : ВалінW: Триптофан Y: Тирозин
@uk
Neurofibromin 1 (NF1) is a gen ...... other cognitive disabilities.
@en
Neurofibromina 1 (neurofibromi ...... (chorobę von Recklinghausena).
@pl
Нейрофибромин — (англ. Neurofi ...... ейрофиброматозом первого типа.
@ru
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NF1
@uk
Neurofibromin 1
@en
Neurofibromin
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Neurofibromina 1
@it
Neurofibromina 1
@pl
Neurofibromine 1
@fr
Нейрофибромин
@ru