NF1

(redirected from Neurofibromin 1)
Also found in: Wikipedia.

NF1

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.

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.
References in periodicals archive ?
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).
Mutations of the ret proto-oncogene (RET) [10] gene in multiple endocrine neoplasia type 2 (MEN 2), the von Hippel-Lindau (VHL) gene in von Hippel-Lindau (VHL) syndrome, the neurofibromin 1 (NF1) gene in neurofibromatosis type 1 (NF1), and of the succinate dehydrogenase complex, subunit B, iron sulfur (Ip) (SDHB) and succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD) genes are the most well-known causes of hereditary PPGLs.