This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
The human NF1 gene is shown in the context of the human genome below. To see information about the NF1 gene in other species, please use the Search Tool to select your desired species. GenScript has in-stock ORF clones for mouse NF1, rat NF1, and human NF1, as well as on-demand NF1 ORF clones in 183 other species.
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