NF1, Official Symbol NF1provided by HGNC Official Full Name neurofibromin 1provided by HGNC Primary source HGNC:HGNC:7765 See related Ensembl:ENSG00000196712 MIM:613113; AllianceGenome:HGNC:7765 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WSS; NFNS; VRNF Summary 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] Expression Ubiquitous expression in thyroid (RPKM 9.3), brain (RPKM 8.2) and 25 other tissues See more Orthologs mouse all