NF1

(redirected from Neurofibromin 1)
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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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Several putative transcription factor binding sites were also identified in this CpG island, including Sp1 transcription factor, neurofibromin 1, CCAAT enhancer binding protein beta, transcription factor AP-2 alpha, CCAAT enhancer binding protein alpha, and organic cation/carnitine transporter 1.
Emerging Markers for Molecular Testing in Lung Cancer Mitogen-activated protein kinase kinase 1 (MEK1/MAP2K1) Fibroblast growth factor receptor 1-4 (FGFR 1-4) Neurotrophic tyrosine kinase, receptor, type 1-3 (NTRK1-3) Neuregulin 1 (NRG1) Ras-like without CAAX 1 (RIT1) Neurofibromin 1 (NF1) Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) AKT serine/threonine kinase 1 (AKT1) NRAS proto-oncogene, GTPase (NRAS) Mechanistic target of rapamycin (MTOR) Tuberous sclerosis 1 (TSC1) Tuberous sclerosis 2 (TSC2) KIT proto-oncogene receptor tyrosine kinase (KIT) Platelet-derived growth factor receptor alpha (PDGFRA) Discoidin domain receptor tyrosine kinase 2 (DDR2) Figure 1.
To the Editor: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic neurocutaneous disorder mainly characterized by cafe-au-lait macules (CALMs), neurofibromas, skinfold freckling, and Lisch nodules.[sup][1] Mutations in the neurofibromin 1 gene ( NF1 )are known to solely result in NF1.[sup][1] Most NF1 patients with mutations in NF1 are sporadic cases; the mean proportion of familial ones is approximately 31.8% with a range from 13.0% to 45.8%.[sup][2],[3],[4] The mutation analysis of NF1 remains difficult due to the large size and complexity of the gene.[sup][5] The direct DNA sequence analysis is a conclusive approach to establishing the molecular diagnosis of NF1.
Moreover, the activation of RAS signalling can be achieved through losing the expression of the RAS antagonist, neurofibromin 1 (NF1), which is observed in about 14% of GBM cases [21].
Tumors due to mutations of neurofibromin 1 (NF1) [4] and ret proto-oncogene (RET) genes show increases in metanephrine, usually with additional increases in normetanephrine (Fig.
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).
(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).
[4] Human genes: NF1, neurofibromin 1; RET, ret proto-oncogene; VHL, von HippelLindau tumor suppressor, E3 ubiquitin protein ligase; SDHB, succinate dehydrogenase complex, subunit B, iron sulfur (Ip); SDHD, succinate dehydrogenase complex, subunit D, integral membrane protein.
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.
[7] Human genes: RET, ret proto-oncogene; VHL, von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase; NF1, neurofibromin 1; SDHD, succinate dehydrogenase complex, subunit D, integral membrane protein; TMEM127, transmembrane protein 127; MAX, MYC associated factor X.

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