Neurofibromin (NF-1) is a protein that is encoded in humans, in the NF1 gene.[5] NF1 is located on chromosome 17.[6][7][8] Neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP.[6][7][9] NF1 has a high mutation rate and mutations can alter cellular growth control, and neural development, resulting in neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome).[6][7] 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.[6][7][10]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000196712 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020716 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "UniProt". www.uniprot.org. Retrieved 8 August 2024.
- ^ a b c d Upadhyaya M, Cooper DN, eds. (2012). Neurofibromatosis type 1: molecular and cellular biology. Springer Berlin Heidelberg. doi:10.1007/978-3-642-32864-0. ISBN 9783642328633. S2CID 12164721.
- ^ a b c d Peltonen S, Kallionpää RA, Peltonen J (July 2017). "Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas". Experimental Dermatology. 26 (7): 645–648. doi:10.1111/exd.13212. PMID 27622733.
- ^ Cite error: The named reference
Trovó-Marqui_2006was invoked but never defined (see the help page). - ^ Scheffzek K, Welti S (2012). "Neurofibromin: Protein Domains and Functional Characteristics". In Upadhyaya M, Cooper D (eds.). Neurofibromatosis Type 1. Berlin, Heidelberg: Springer. pp. 305–326. doi:10.1007/978-3-642-32864-0_20. ISBN 978-3-642-32864-0.
- ^ Peltonen S, Pöyhönen M (2012). "Clinical Diagnosis and Atypical Forms of NF1". In Upadhyaya M, Cooper D (eds.). Neurofibromatosis Type 1. Berlin, Heidelberg: Springer. pp. 17–30. doi:10.1007/978-3-642-32864-0_2. ISBN 978-3-642-32864-0.