Neurofibromin 1

Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
File:PBB Protein NF1 image.jpg PDB rendering based on 1nf1.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1nf1​, 2d4q​
Identifiers
Symbols	NF1 ; DKFZp686J1293; NFNS; VRNF; WSS
External IDs	Template:OMIM5 Template:MGI HomoloGene: 226
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Neurofibromin 1, is a human gene. The neurofibromin 1 protein is associated with neurofibromatosis type I (neurofibromatosis, von Recklinghausen disease, Watson disease), also known as NF1. Mutations linked to neurofibromatosis type 1 led to the identification of NF1. NF1 encodes the protein neurofibromin, which appears to be a negative regulator of the ras signal transduction pathway. In addition to type 1 neurofibromatosis, mutations in NF1 can also lead to juvenile myelomonocytic leukemia. Although alternatively-spliced NF1 mRNA transcripts have been isolated, their functional differences, if any, remain unclear.

Further reading

• Upadhyaya M, Shaw DJ, Harper PS (1994). "Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene". Hum. Mutat. 4 (2): 83–101. doi:10.1002/humu.1380040202. PMID 7981724.CS1 maint: Multiple names: authors list (link)
• Shen MH, Harper PS, Upadhyaya M (1996). "Molecular genetics of neurofibromatosis type 1 (NF1)". J. Med. Genet. 33 (1): 2–17. PMID 8825042.CS1 maint: Multiple names: authors list (link)
• Skuse GR, Cappione AJ (1997). "RNA processing and clinical variability in neurofibromatosis type I (NF1)". Hum. Mol. Genet. 6 (10): 1707–12. PMID 9300663.
• Feldkamp MM, Gutmann DH, Guha A (1998). "Neurofibromatosis type 1: piecing the puzzle together". The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 25 (3): 181–91. PMID 9706718.CS1 maint: Multiple names: authors list (link)
• Hamilton SJ, Friedman JM (2001). "Insights into the pathogenesis of neurofibromatosis 1 vasculopathy". Clin. Genet. 58 (5): 341–4. PMID 11140831.
• Baralle D, Baralle M (2006). "Splicing in action: assessing disease causing sequence changes". J. Med. Genet. 42 (10): 737–48. doi:10.1136/jmg.2004.029538. PMID 16199547.
• Mensink KA, Ketterling RP, Flynn HC; et al. (2006). "Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature". J. Med. Genet. 43 (2): e8. doi:10.1136/jmg.2005.034256. PMID 16467218.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Trovó-Marqui AB, Tajara EH (2006). "Neurofibromin: a general outlook". Clin. Genet. 70 (1): 1–13. doi:10.1111/j.1399-0004.2006.00639.x. PMID 16813595.