Anti-Neurofibromin/NF1 Antibody Picoband® (monoclonal, 4F8B7)

Neurofibromin 1 (NF1) is a gene in humans that is located on chromosome 17. 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.

Expressed in several hair follicle cell types: basal and peripheral matrix cells, and cells of the outer and inner root sheaths. Expressed in colon. Present in cortical neurons (at protein level) .

Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signaling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize and associate with ISGF3G/IRF-9 to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of IFN-stimulated genes (ISG), which drive the cell in an antiviral state. In response to type II IFN (IFN-gamma), STAT1 is tyrosine- and serine-phosphorylated. It then forms a homodimer termed IFN-gamma-activated factor (GAF), migrates into the nucleus and binds to the IFN gamma activated sequence (GAS) to drive the expression of the target genes, inducing a cellular antiviral state. Becomes activated in response to KITLG/SCF and KIT signaling. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4.

1. Scheffzek K, Welti S (2012) . Neurofibromin: Protein Domains and Functional Characteristics. In Upadhyaya M, Cooper D (eds.) . Neurofibromatosis Type 1. Berlin, Heidelberg: Springer. pp. 305–326. 2. Trovó-Marqui AB, Tajara EH (July 2006) . Neurofibromin: a general outlook. Clinical Genetics. 70 (1) : 1–13. 3. Peltonen S, Pöyhönen M (2012) . Clinical Diagnosis and Atypical Forms of NF1. In Upadhyaya M, Cooper D (eds.) . Neurofibromatosis Type 1. Berlin, Heidelberg: Springer. pp. 17–30.

At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.