[Characterization of the neurofibromatosis type 1 gene and neurofibromin's role in cells].
Neurofibromatosis type 1(NF1), a pleiotrophic autosomal dominant disorder, was first described in 1882 by Friedrich Daniel von Recklinghausen. The cloning of the NF1 gene located at 17q11.2 revealed that the gene contains 60 exons and spans 350 kb of genomic DNA in 1990. The gene product of NF1 is neurofibromin. Neurofibromin is a major negative regulator of the Ras pathway in cells, which transmits mitogenic signals to the nucleus through the cascade of MAP kinase. Loss of neurofibromin in patients with NF1 leads to accumulation of activated Ras (bound to GTP), and thus increases downstream mitogenic signaling. Future understanding the neurofibromin's role will contribute to the development of agents and genetic therapies which modulate Ras-mediated signaling pathways.
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Sakai
D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D019204:GTP-Binding Proteins / Q000378:metabolism / Q000502:physiology; D005799:Genes, Dominant; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D020935:MAP Kinase Signaling System; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000502:physiology; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000473:pathology; D025542:Neurofibromin 1; D014178:Translocation, Genetic; D018631:ras Proteins / Q000378:metabolism
D009419:Nerve Tissue Proteins; D025542:Neurofibromin 1; D019204:GTP-Binding Proteins; D018631:ras Proteins