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Neurofibromin 1 (NF1)

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NFNS; VRNF; WSS; Neurofibromatosis; Von Recklinghausen disease; Watson disease; Neurofibromatosis-related protein NF-1; Neurofibromin truncated

Neurofibromin 1 (NF1)
CCC C674
HGNC 7765
MGI 97306
PubMed 9668168
RGD 3168
UniProt P21359
Wiki NF1
The neurofibromin 1 protein is associated with neurofibromatosis type I (neurofibromatosis, von Recklinghausen disease, Watson disease), also known as NF1. Mutations linked to neurofibromatosis type 1 led to the identification of NF1.
NF1 encodes the protein neurofibromin, which appears to be a negative regulator of the ras signal transduction pathway. In addition to type 1 neurofibromatosis, mutations in NF1 can also lead to juvenile myelomonocytic leukemia. Although alternatively-spliced NF1 mRNA transcripts have been isolated, their functional differences, if any, remain unclear.Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Neurofibromin 1 (NF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Neurofibromin 1 (NF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Neurofibromin 1 (NF1) Polyclonal Antibody Customized Service Offer
Assay Kits SEC674Hu ELISA Kit for Neurofibromin 1 (NF1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Neurofibromin 1 (NF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Neurofibromin 1 (NF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Neurofibromin 1 (NF1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Neurofibromin 1 (NF1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Neurofibromin 1 (NF1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Neurofibromin 1 (NF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Neurofibromin 1 (NF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Neurofibromin 1 (NF1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Neurofibromin 1 (NF1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Neurofibromin 1 (NF1) ELISA Kit Customized Service Offer
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  42. "Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene."Hum. Mutat. 3:347-352(1994) [PubMed] [Europe PMC] [Abstract]
  43. "Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene."J. Med. Genet. 32:706-710(1995) [PubMed] [Europe PMC] [Abstract]
  44. "Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms."Hum. Genet. 97:492-495(1996) [PubMed] [Europe PMC] [Abstract]
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  47. "Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene."Hum. Genet. 99:674-676(1997) [PubMed] [Europe PMC] [Abstract]
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  49. "Six novel mutations in the neurofibromatosis type 1 (NF1) gene."Hum. Mutat. 10:248-250(1997) [PubMed] [Europe PMC] [Abstract]
  50. "Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1)."Hum. Mol. Genet. 7:1261-1268(1998) [PubMed] [Europe PMC] [Abstract]
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  52. "Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing."Genet. Med. 1:248-253(1999) [PubMed] [Europe PMC] [Abstract]
  53. "A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE)."Hum. Mutat. 13:337-337(1999) [PubMed] [Europe PMC] [Abstract]
  54. "Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain."Am. J. Hum. Genet. 66:790-818(2000) [PubMed] [Europe PMC] [Abstract]
  55. "Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1."Hum. Mol. Genet. 9:237-247(2000) [PubMed] [Europe PMC] [Abstract]
  56. ErratumHum. Mol. Genet. 9:659-659(2000)
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  59. "Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene."Hum. Genet. 109:487-497(2001) [PubMed] [Europe PMC] [Abstract]
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  63. "NF1 gene analysis based on DHPLC."Hum. Mutat. 21:171-172(2003) [PubMed] [Europe PMC] [Abstract]
  64. "NF1 mutations and clinical spectrum in patients with spinal neurofibromas."J. Med. Genet. 40:368-371(2003) [PubMed] [Europe PMC] [Abstract]
  65. "Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1."Hum. Mutat. 24:491-501(2004) [PubMed] [Europe PMC] [Abstract]
  66. "Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1."Hum. Mutat. 23:629-629(2004) [PubMed] [Europe PMC] [Abstract]
  67. "Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain."J. Med. Genet. 41:E48-E48(2004) [PubMed] [Europe PMC] [Abstract]
  68. "Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)."J. Med. Genet. 41:837-841(2004) [PubMed] [Europe PMC] [Abstract]
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  72. "An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation." Am. J. Hum. Genet. 80:140-151(2007) [PubMed] [Europe PMC] [Abstract]
  73. "Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1."Clin. Genet. 76:524-534(2009) [PubMed] [Europe PMC] [Abstract]
  74. "Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas."Hered. Cancer Clin. Pract. 9:6-6(2011) [PubMed] [Europe PMC] [Abstract]
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  76. "Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients."Ann. Hum. Genet. 77:364-379(2013) [PubMed] [Europe PMC] [Abstract]
  77. "The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE."Childs Nerv. Syst. 30:1183-1189(2014) [PubMed] [Europe PMC] [Abstract]