NF1 Monoclonal Antibody (McNFn27b), Invitrogen™

Description

MA1-085 detects neurofibromin in human, rat, and mouse cells. MA1-085 has been successfully used in Western blot, and immunohistochemistry procedures. By Western blot, this antibody detects a ∽240-260 kDa protein. The MA1-085 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.