WSS; NFNS; VRNF

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

The antibody detects endogenous levels of total NF1 protein.

Antigen affinity purification

Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.

0.7mg/ml (lot specific)

Store at -20 degree C

Small volumes of anti-NF1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Total protein Ab

Immunohistochemistry (IHC), Western Blot (WB)

Western Blot: 1:200-1000
Immunohistochemistry: 1: 20-100

Gel: 6%SDS-PAGE Lysate: 40 ug, Lane: NIH/3T3 cell lysate, Primary antibody:NF1 antibody at dilution 1/250, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 1 second

The image on the left is immunohistochemistry of paraffin-embedded Human breast cancer tissue using NF1 Antibody at dilution 1/25, on the right is treated with synthetic peptide. (Original magnification: x200)

318,992 Da

neurofibromin 1

neurofibromin

Neurofibromin

NF1_HUMAN

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]

NF1: a Ras-GAP, highly expressed in developing neural cells. Possesses tumor suppressor activity, presumably by virtue of its GTPase activating domain. Neurofibromin is phosphorylated in response to EGF in CNS cells and cell lines. Defects in NF1 are the cause of type 1 neurofibromatosis (NF1), Watson syndrome, and familial spinal neurofibromatosis. NF1 is one of the most frequent autosomal dominant diseases. Four alternatively spliced isoforms have been described.

Protein type: GAPs; GAPs, Ras; Motility/polarity/chemotaxis; Nucleolus; Tumor suppressor

Chromosomal Location of Human Ortholog: 17q11.2

Cellular Component: axon; cytoplasm; cytosol; dendrite; membrane; nucleus

Molecular Function: GTPase activator activity; phosphatidylcholine binding; phosphatidylethanolamine binding; protein binding

Biological Process: actin cytoskeleton organization and biogenesis; adrenal gland development; artery morphogenesis; brain development; camera-type eye morphogenesis; cell communication; cerebral cortex development; cognition; collagen fibril organization; extracellular matrix organization and biogenesis; forebrain astrocyte development; forebrain morphogenesis; heart development; liver development; MAPKKK cascade; metanephros development; myelination in the peripheral nervous system; negative regulation of cell migration; negative regulation of endothelial cell proliferation; negative regulation of fibroblast proliferation; negative regulation of MAP kinase activity; negative regulation of MAPKKK cascade; negative regulation of neuroblast proliferation; negative regulation of oligodendrocyte differentiation; negative regulation of protein kinase activity; negative regulation of Ras protein signal transduction; negative regulation of transcription factor import into nucleus; osteoblast differentiation; peripheral nervous system development; phosphoinositide 3-kinase cascade; pigmentation; positive regulation of adenylate cyclase activity; positive regulation of apoptosis; positive regulation of GTPase activity; positive regulation of neuron apoptosis; Ras protein signal transduction; regulation of angiogenesis; regulation of blood vessel endothelial cell migration; regulation of bone resorption; regulation of cell-matrix adhesion; regulation of glial cell differentiation; regulation of GTPase activity; response to hypoxia; Schwann cell development; smooth muscle development; spinal cord development; sympathetic nervous system development; visual learning; wound healing

Disease: Juvenile Myelomonocytic Leukemia; Neurofibromatosis, Familial Spinal; Neurofibromatosis, Type I; Neurofibromatosis-noonan Syndrome; Watson Syndrome

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