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Neurofibromin / NF1

neurofibromin 1

Neurofibromin / NF1 appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene.

Gene Name: neurofibromin 1
Synonyms: NF1, VRNF, Neurofibromin 1, NFNS, WSS, Neurofibromin
Target Sequences: NM_000267 NP_000258.1 P21359

Publications (5)

1
Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia. Hisaoka M, Hashimoto H, Ohguri T, Aoki T, Okamoto S, Tanaka H, Okimoto N, Nakamura T, Ishida T. Skeletal radiology. 2004 33:545-9. [PubMed:15258702]
2
NF1 gene expression in mouse fracture healing and in experimental rat pseudarthrosis. Kuorilehto T, Ekholm E, Nissinen M, Hietaniemi K, Hiltunen A, Paavolainen P, Penttinen R, Peltonen J. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society. 2006 54:363-70. [PubMed:16314442]
3
S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas. Tucker T, Riccardi VM, Brown C, Fee J, Sutcliffe M, Vielkind J, Wechsler J, Wolkenstein P, Friedman JM. Journal of neuroscience research. 2011 89:1451-60. [PubMed:21674567]
4
Comparative oncogenomics implicates the neurofibromin 1 gene (NF1) as a breast cancer driver. Wallace MD, Pfefferle AD, Shen L, McNairn AJ, Cerami EG, Fallon BL, Rinaldi VD, Southard TL, Perou CM, Schimenti JC. Genetics. 2012 192:385-96. [PubMed:22851646] [PMC:PMC3454871]
5
Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance. Eunyoung Tak, Minhee Kim, Youngra Cho, Sueun Choi, Jihun Kim, Buhm Han, Hyung-Don Kim, Chloe Soo-Hyun Jang, Jeong Eun Kim, Yong Sang Hong, Sun Young Kim, Tae Won Kim. Oncology reports. 2022 Jan;;47:15. [Full Text Article] [PubMed:34779495] [PMC:PMC8611403] Related Antibodies: LS-B14758.
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Proteins (3)
Over-Expression Lysate (2)
Recombinant (1)
Neurofibromin / NF1 (3)
No (3)
GST, N-terminus (1)
Myc-DDK (Flag) (2)
Human (2)
293T Cells (1)
HEK 293 Cells (1)
Wheat Germ Extract (1)
Neurofibromin / NF1 Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
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HEK 293 Cells
Myc-DDK (Flag)
67.4 kDa
100 µg/$494
Neurofibromin / NF1 Protein - 12.5% SDS-PAGE Stained with Coomassie Blue.
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Wheat Germ Extract
GST, N-terminus
10 µg/$479; 25 µg/$670
Neurofibromin / NF1 Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
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293T Cells
Myc-DDK (Flag)
67.4 kDa
20 µg/$150
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The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).