neurofibromin

NF1

A gene on chromosome 17q11.2 that encodes neurofibromin 1, a protein which stimulates GTPase activity of Ras and may regulate Ras activity.
Molecular pathology
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.

单词	neurofibromin
释义	neurofibromin NF1 A gene on chromosome 17q11.2 that encodes neurofibromin 1, a protein which stimulates GTPase activity of Ras and may regulate Ras activity. Molecular pathology 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. AcronymsSeeNF
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