Description
Product Characteristics:
Neurofibromin is a product of the tumor suppressor gene, Neurofibromatosis type I. Neurofibromin is known to have GTPase activity that modulates the ras pathway. The absence of or alteration of the neurofibromin protein may lead to Neurofibromatosis disease. This protein has not been purified, therefore, most of the information regarding this protein has been deduced from homology analysis of its gene sequence.
Subcellular location: Nucleus
Synonyms: NF1phospho S2515, p-NF1S2515, DKFZp686J1293, FLJ21220, Neurofibromatosis Noonan syndrome, Neurofibromatosis related protein NF 1, Neurofibromatosis related protein NF1, neurofibromatosis type I, Neurofibromatosis-related protein NF-1, Neurofibromin 1, Neurofibromin truncated, Neurofibromin1, NF 1, NF, NF1, NF1_HUMAN, NFNS, Type 1 Neurofibromatosis, von Recklinghausen disease neurofibromin, von Recklinghausen disease related protein VRNF, VRNF, WATS, Watson disease related protein WSS, Watson syndrome, WSS.
Target Information: 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]