Neurofibromin
From Proteopedia
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== Disease Relevance == | == Disease Relevance == | ||
| - | + | Mutations to the neurofibromin protein are implicated in the progression of Neurofibromatosis type 1. This condition drives several forms of human cancers by inactivating the Ras suppression effects of NF, allowing Ras to behave as an oncogene. Neurofibromatosis type 1 is an autosomal dominant disorder that affects 1 in 3,000 people, and the NF gene itself has the highest mutation rate of any known human gene, adding to its prevalence. | |
This is a sample scene created with SAT to <scene name="/12/3456/Sample/1">color</scene> by Group, and another to make <scene name="/12/3456/Sample/2">a transparent representation</scene> of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes. | This is a sample scene created with SAT to <scene name="/12/3456/Sample/1">color</scene> by Group, and another to make <scene name="/12/3456/Sample/2">a transparent representation</scene> of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes. | ||
</StructureSection> | </StructureSection> | ||
== References == | == References == | ||
| + | Lupton, C. J.; Bayly-Jones, C.; D’Andrea, L.; Huang, C.; Schittenhelm, R. B.; Venugopal, H.; Whisstock, J. C.; Halls, M. L.; Ellisdon, A. M. The Cryo-EM Structure of the Human Neurofibromin Dimer Reveals the Molecular Basis for Neurofibromatosis Type 1. ''Nature Structural & Molecular Biology 2021'', 28 (12), 982–988. | ||
<references/> | <references/> | ||
Revision as of 19:56, 24 March 2022
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References
Lupton, C. J.; Bayly-Jones, C.; D’Andrea, L.; Huang, C.; Schittenhelm, R. B.; Venugopal, H.; Whisstock, J. C.; Halls, M. L.; Ellisdon, A. M. The Cryo-EM Structure of the Human Neurofibromin Dimer Reveals the Molecular Basis for Neurofibromatosis Type 1. Nature Structural & Molecular Biology 2021, 28 (12), 982–988.
Proteopedia Page Contributors and Editors (what is this?)
Jordyn K. Lenard, Ryan D. Adkins, Michal Harel, OCA, Jaime Prilusky
