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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: DKFZp686J1293; FLJ21220; neurofibromatosis 1; Neurofibromatosis type 1; Neurofibromatosis-related protein NF-1; Neurofibromin; Neurofibromin truncated
基因别名: AW494271; E030030H24Rik; Nf-1; NF1; NFNS; VRNF; WSS
UniProt ID: (Human) P21359, (Mouse) Q04690, (Rat) P97526
Entrez Gene ID: (Human) 4763, (Mouse) 18015, (Rat) 24592