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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NF1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4763
Official gene symbolNF1
Full nameneurofibromin 1
Aliases,DKFZp686J1293,FLJ21220,NFNS,VRNF,WSS,
Gene summaryThis 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]
LocationChromosome: 17   Locus: 17q11.2
Gene position29421945 - 29704695  Map Viewer
Gene orientationplus
Gene size282751 bp
Gene sequence
OMIM ID613113