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Neurofibromin Polyclonal Antibody
Datasheet
Catalog Number:
E20-73065Amount:
100ulMolecular Weight:
319372DaPurification:
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.Immunogen:
The antiserum was produced against synthesized peptide derived from human NF1. AA range:1551-1600Source:
Polyclonal, Rabbit
- Western Blot analysis of various cells using Neurofibromin Polyclonal Antibody
Gene Name:
NF1Dilution:
WB 1:500-2000;IHC-p 1:50-300Protein Name:
NeurofibrominHuman Gene Id:
4763Human Swiss Prot No:
P21359Mouse Gene Id:
18015Mouse Swiss Prot No:
Q04690Rat Gene Id:
24592Rat Swiss Prot No:
P97526Specificity:
Neurofibromin Polyclonal Antibody detects endogenous levels of Neurofibromin protein.Formulation:
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.Concentration:
1 mg/mlStorage Stability:
-20°C/1 yearOther Name:
NF1; Neurofibromin; Neurofibromatosis-related protein NF-1Observed Band(KD):
319Background:
neurofibromin 1(NF1) Homo sapiens 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 andSubcellular Location:
Nucleus . Nucleus, nucleolus .Expression:
Detected in brain, peripheral nerve, lung, colon and muscle.
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