Full name: neurofibromin 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: NFNS; VRNF; WSS

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

Gene size: 282751bp

Exon count: 58