neurofibromin


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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.
References in periodicals archive ?
Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart.
2, which encodes neurofibromin that acts as a negative regulator of the Ras-related G-proteins by increasing Ras GTPase activity.
Notably, approximately 20% of these candidate genes have already been implicated in Mendelian diseases, including disease genes for rare forms of cancer susceptibility, such as the breast cancer susceptibility loci BRCA1 and BRCA2, neurofibromin 1 (NF1), retinoblastoma locus RB1, Wilms tumor locus WT1, and ataxia telangiectasia mutated (ATM).
3] Human genes: RET, ret proto-oncogene; VHL, von Hippel-Lindau tumor suppressor; NF1, neurofibromin 1; SDHB, succinate dehydrogenase complex, subunit B, iron sulfur (Ip); SDHC, succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa; SDHD, succinate dehydrogenase complex, subunit D, integral membrane protein.