NF1(redirected from Neurofibromin 1)
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a gene associated with neurofibromatosis. The gene is normally part of a family that helps regulate the timing of cell divisions. It may become defective, leading to neurofibromatosis expression, when an itinerant sequence of a deoxyribonucleic acid molecule becomes wedged in the NF1 gene.
NF1A gene on chromosome 17q11.2 that encodes neurofibromin 1, a protein which stimulates GTPase activity of Ras and may regulate Ras activity.
NF1 defects cause:
• Familial spinal neurofibromatosis;
• Juvenile myelomonocytic leukaemia;
• Neurofibromatosis type 1;
• Neurofibromatosis-Noonan syndrome;
• Watson syndrome; and
• Some cases of colorectal carcinoma.