title: [Molecular genetics of neurofibromatosis type 1].
abstract: The gene responsible for neurofibromatosis type 1 (NF1) encodes a protein similar to GTPase-activating protein (GAP) for the products of ras protooncogenes. Since NF1 protein possesses GAP-like activity, it is suggested that NF1 protein plays a role in the regulation of ras-mediated signal transduction. Impaired function of NF1 protein could therefore, lead to abnormal growth or differentiation of neural crest-derived cells in NF1 patients. Mutations of NF1 gene are also found in sporadic tumors not associated with NF1, supporting the hypothesis that NF1 gene acts as a tumor suppressor gene.
authors.affiliation: Department of Applied physiology and Molecular biology, Tohoku University School of Medicine.
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: S
authors.initials: S
authors.lastname: Shibahara
mesh_terms: D020690:GTPase-Activating Proteins; D016514:Genes, Neurofibromatosis 1; D011905:Genes, ras; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000209:etiology / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger; D015398:Signal Transduction; D020703:ras GTPase-Activating Proteins
chemical_list: D020690:GTPase-Activating Proteins; D011506:Proteins; D012333:RNA, Messenger; D020703:ras GTPase-Activating Proteins