FIGURE: 1 / 3
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.
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Protein Aliases: DKFZp686J1293; FLJ21220; neurofibromatosis 1; Neurofibromatosis type 1; Neurofibromatosis-related protein NF-1; Neurofibromin; Neurofibromin truncated
Gene Aliases: AW494271; E030030H24Rik; Nf-1; NF1; NFNS; VRNF; WSS
Molecular Function: GTPase-activating protein