Target:Neurofibromin
Fields:EGFR tyrosine kinase inhibitor resistance;MAPK signaling pathway;Ras signaling pathway
Gene Name:NF1
Protein Name:Neurofibromin
Human Gene Id:4763
Human Swiss Prot No:P21359
Mouse Gene Id:18015
Mouse Swiss Prot No:Q04690
Rat Gene Id:24592
Rat Swiss Prot No:P97526
Immunogen:The antiserum was produced against synthesized peptide derived from human NF1. AA range:1551-1600
Specificity:Neurofibromin Polyclonal Antibody detects endogenous levels of Neurofibromin protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500-2000;IHC 1:50-300
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:NF1;Neurofibromin;Neurofibromatosis-related protein NF-1
Observed Band(KD):319kD
Background: 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],
Function:alternative products:Experimental confirmation may be lacking for some isoforms,caution:Was originally (PubMed:8807336) thought to be associated with LEOPARD (LS), an autosomal dominant syndrome.,disease:Defects in NF1 are a cause of familial spinal neurofibromatosis (spinal NF) [MIM:162210]. Familial spinal NF is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.,disease:Defects in NF1 are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. Germline mutations of NF1 account for the association of JMML with type 1 neurofibromatosis (NF1).,disease:Defects in NF1 are a cause of neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]. NFNS is characterized by manifestations of both NF1 and
Subcellular Location:Nucleus . Nucleus, nucleolus .
Expression:Detected in brain, peripheral nerve, lung, colon and muscle.