NF1 Antibody

Inactivating mutations in NF1 (neurofibromin 1) result in neurofibromatosis type I (NF1) which is characterized by Schwann cell neurofibromas, café-au-lait spots, and benign lesions of the iris. At the cellular level, NF1 functions as a negative regulator of Ras activity. Loss of NF1 leads to increased levels of active Ras-GTP which is important for the formation and maintenance of Schwann cell tumors.
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