OriGene

Neurofibromin 1 Polyclonal Antibody

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Neurofibromin 1 Antibody in ELISA (ELISA) — ELISA: Neurofibromin 1 Antibody.

Product Details

TA590747

Applications	Tested Dilution	Publications
ELISA (ELISA)	1:100-1:2,000	-

Product Specifications
Species Reactivity	Human
Host/Isotype	Rabbit / IgG
Class	Polyclonal
Type	Antibody
Immunogen	DNA immunization. This antibody is specific for the N Terminus Region of the target protein.
Conjugate	Unconjugated
Form	Liquid
Concentration	1.26 mg/mL
Purification	Protein A/G
Storage buffer	PBS
Contains	no preservative
Storage conditions	-20° C, Avoid Freeze/Thaw Cycles

Target Information

The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.

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Bioinformatics

Protein Aliases: DKFZp686J1293; FLJ21220; Neurofibromatosis-related protein NF-1; Neurofibromin; Neurofibromin truncated

Gene Aliases: NF1; NFNS; VRNF; WSS

UniProt ID: (Human) P21359

Entrez Gene ID: (Human) 4763

Molecular Function: GTPase-activating protein

MAPK cascade osteoblast differentiation metanephros development response to hypoxia liver development negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation regulation of cell-matrix adhesion negative regulation of cell-matrix adhesion negative regulation of protein kinase activity cell communication Ras protein signal transduction negative regulation of neuroblast proliferation brain development peripheral nervous system development heart development skeletal muscle tissue development visual learning extrinsic apoptotic signaling pathway via death domain receptors regulation of gene expression Schwann cell development phosphatidylinositol 3-kinase signaling negative regulation of angiogenesis spinal cord development amygdala development forebrain astrocyte development neural tube development cerebral cortex development myelination in peripheral nervous system actin cytoskeleton organization extracellular matrix organization collagen fibril organization adrenal gland development negative regulation of cell migration regulation of synaptic transmission, GABAergic cellular response to heat negative regulation of Rac protein signal transduction wound healing negative regulation of transcription factor import into nucleus positive regulation of apoptotic process regulation of GTPase activity negative regulation of MAP kinase activity negative regulation of MAPK cascade pigmentation positive regulation of neuron apoptotic process regulation of blood vessel endothelial cell migration positive regulation of GTPase activity regulation of bone resorption negative regulation of osteoclast differentiation regulation of glial cell differentiation positive regulation of adenylate cyclase activity regulation of angiogenesis negative regulation of Ras protein signal transduction negative regulation of neurotransmitter secretion negative regulation of fibroblast proliferation regulation of long-term neuronal synaptic plasticity sympathetic nervous system development camera-type eye morphogenesis negative regulation of astrocyte differentiation negative regulation of oligodendrocyte differentiation smooth muscle tissue development artery morphogenesis forebrain morphogenesis cognition gamma-aminobutyric acid secretion, neurotransmission glutamate secretion, neurotransmission observational learning regulation of long-term synaptic potentiation positive regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of extrinsic apoptotic signaling pathway in absence of ligand

Process(es)

GTPase activator activity protein binding phosphatidylethanolamine binding phosphatidylcholine binding