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.NF1 (Neurofibromin 1) is a Protein Coding gene. Diseases associated with NF1 include Neurofibromatosis-Noonan Syndrome and Neurofibromatosis, Type 1. Among its related pathways are Development VEGF signaling via VEGFR2 - generic cascades and RET signaling. GO annotations related to this gene include binding and phosphatidylcholine binding.

Dettagli prodotto

• Codice: E-AB-53528_20μL
• Marca: Elabscience
• Specie target: Human;Mouse;Rat
• Host: Rabbit
• Concentrazione: 1.7 mg/mL
• Link: Apri link
• Stoccaggio: Store at -20℃ Valid for 12 months. Avoid freeze / thaw cycles.
• Isotipo: IgG
• Clonalità: Polyclonal
• Coniugazione: Unconjugated
• Applicazione: IHC
• Diluizione: IHC 1:40-1:250
• Simbolo target: NF1
• Ig target: 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;NFNS;Type 1 Neurofibromatosis;von Recklinghausen disease neurofibromin;von Recklinghausen disease related protein VRNF;VRNF;WATS;Watson disease related protein WSS;Watson syndrome;WSS
• Area di ricerca: Cancer;Epigenetics and Nuclear Signaling;Metabolism;Neuroscience;Signal Transduction