Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis.
The gene for von Recklinghausen neurofibromatosis (NF1) was recently identified by positional cloning and found to code for a large, ubiquitously expressed protein. This protein has both structural and functional similarity to a family of proteins with guanosine triphosphatase-activating properties, involved in the regulation of the protooncogene ras. One of the postulated functions of the NF1 gene product may relate to its ability to regulate ras-mediated cell proliferation. Selective pharmacotherapy directed at downregulating ras may be of benefit to patients with NF1.
Gutmann
D H
DH
Department of Neurology, Howard Hughes Medical Institute, University of Michigan Medical School, Ann Arbor.
Collins
F S
FS
D005544:Forecasting; D005796:Genes; D016147:Genes, Tumor Suppressor; D006801:Humans; D008967:Molecular Biology; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D011506:Proteins / Q000502:physiology
D025542:Neurofibromin 1; D011506:Proteins