From Wikipedia, the free encyclopedia
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.[1]
[edit] References
[edit] 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.
- Shen MH, Harper PS, Upadhyaya M (1996). "Molecular genetics of neurofibromatosis type 1 (NF1).". J. Med. Genet. 33 (1): 2–17. PMID 8825042.
- 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.
- 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.
- 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.
