NF1

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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 ?
sup][1] Mutations in the neurofibromin 1 gene ( NF1 )are known to solely result in NF1.
12) Neurofibromin 1 (NF1) is a GTPase-activating protein that stimulates GTP hydrolysis by RAS, thus favoring the formation of inactive RAS-GDP.
The majority of these genes [including notch 1 (NOTCH1), EGFR, retinoblastoma 1 (RB1), PTEN, cyclin-dependent kinase 4 (CDK4), ERBB2, fibroblast growth factor receptor 1 (FGFR1), TP53, neurofibromin 1 (NF1), and v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT)] were known to have significantly altered copy numbers in cancer (14).
The mutation is a deletion of the NF1 gene on chromosome 17 which codes for the neurofibromin 1 gene which serves as a tumor suppressor.
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).
Tumors due to mutations of neurofibromin 1 (NF1) [4] and ret proto-oncogene (RET) genes show increases in metanephrine, usuallywith additional increases in normetanephrine (Fig.
Additionally, epidermal growth factor receptor (EGFR) and insulin-like growth factor 1 receptor (IGF1R) amplifications and tumor protein p53 (TP53), retinoblastoma 1 (Rbl), and neurofibromin 1 (NF1) mutations are present in borderline and malignant phyllodes tumors, but are absent in benign phyllodes tumors and fibroadenomas.
171) The regulation of neurofibromin 1 (NF1) by miR-193b impaired cell migration and invasion via inhibiting ERK1/2 phosphorylation.
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.