Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis

Abstract

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.