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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.
neurofibromin(nū″rō-fī-brō′mĭn, noo″) [″ + ″]
A tumor suppressor protein whose expression is reduced in the neurons of patients with neurofibromatosis and increased in the skin of patients who suffer tissue trauma.