Gutmann D H, Collins F S
Department of Neurology, Howard Hughes Medical Institute, University of Michigan Medical School, Ann Arbor.
Ann Neurol. 1992 May;31(5):555-61. doi: 10.1002/ana.410310515.
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.
冯·雷克林霍增氏神经纤维瘤病（NF1）的基因最近通过定位克隆得以确定，结果发现它编码一种广泛表达的大型蛋白质。这种蛋白质与一类具有鸟苷三磷酸酶激活特性的蛋白质在结构和功能上存在相似性，这类蛋白质参与原癌基因ras的调控。NF1基因产物的一种推测功能可能与其调节ras介导的细胞增殖的能力有关。针对下调ras的选择性药物治疗可能对NF1患者有益。
