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 ?
6547_6548insA) is predicted to disturb 38 amino acids starting from the threonine (T) residue at position 2183 of the neurofibromin protein and truncate the protein by 599 amino acids (p.
The motor neurons of the hsNF1/mito-GFP flies express mito-GFP and neurofibromin by the leakage expression of a heat-shock-controlled Neurofibromatosis-1 (NF1) transgene (Guo et al.
2 whose product is neurofibromin expressed in many organs like brain, kidney, spleen and thymus.
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).
Loss of neurofibromin through mutation leads to an increased risk of developing benign and malignant tumours in affected individuals [10].
Legius syndrome is caused by mutations in the SPRED1 gene, while NF1 is caused by mutations in the gene encoding neurofibromin.
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).
Patients have an abnormal gene product, neurofibromin, on chromosome 17.
The 3 most-common molecular alterations in malignant mesothelioma are loss of neurofibromin 2 (merlin or NF2), cyclin-dependent kinase inhibitor 2A (CDKN2A, p16), and BRCA1-associated protein-1 (BAP1).
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a genetic syndrome which is autosomal dominant caused by mutations in genes encoding for neurofibromin (1).
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.
Several changes in the tumor suppressor gene p16 (CDKN2A) and p14 (ARF) and loss of function of neurofibromin 2 (NF2) or merlin and inactivation of INK4[alpha]/ARF are key events in tumorigenesis.