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.
| Original language | English |
|---|---|
| Pages (from-to) | 2457-2461 |
| Number of pages | 5 |
| Journal | Nippon rinsho. Japanese journal of clinical medicine |
| Volume | 51 |
| Issue number | 9 |
| Publication status | Published - 1993 Sep |
ASJC Scopus subject areas
- Medicine(all)
Fingerprint Dive into the research topics of 'Molecular genetics of neurofibromatosis type 1'. Together they form a unique fingerprint.
Cite this
Suzuki, H., Takahashi, K., & Shibahara, S. (1993). Molecular genetics of neurofibromatosis type 1. Nippon rinsho. Japanese journal of clinical medicine, 51(9), 2457-2461.