NF1 Monoclonal Antibody (McNFn27a)

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Product Description

MA1-084 detects neurofibromin in human, rat and mouse cells. MA1-084 has been successfully used in Western blot, procedures. By Western blot, this antibody detects a ~230-260 kDa protein. The MA1-084 immunogen is a synthetic peptide corresponding to the N-terminal residues 27-41 of human neurofibromin. 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.