Neurofibromin Recombinant Rabbit mAb (S-3540-15)

Neurofibromin is a large, ubiquitously expressed tumor suppressor protein encoded by the NF1 gene that functions primarily as a Ras GTPase-activating protein (GAP), negatively regulating the Ras/MAPK signaling cascade by accelerating the hydrolysis of GTP to GDP on active Ras proteins, thereby terminating downstream proliferative signals and maintaining cellular homeostasis. Loss-of-function mutations in the NF1 gene cause neurofibromatosis type 1 (NF1), a common autosomal dominant neurocutaneous disorder characterized by café-au-lait spots, benign peripheral nerve sheath tumors (neurofibromas), skeletal abnormalities, and predisposition to malignant peripheral nerve sheath tumors and other cancers, resulting from uncontrolled Ras activation and dysregulated cell growth. Structurally, neurofibromin comprises multiple functional domains including the central GAP-related domain (GRD) essential for Ras inactivation, cysteine-serine-rich domains (CSRD) involved in lipid metabolism and membrane targeting, and a C-terminal domain that mediates interactions with syndecans, microtubules, and cAMP signaling pathways, implicating the protein in diverse processes beyond tumor suppression, such as neural crest cell migration, synaptic plasticity, learning, and memory formation.