From Proteopedia
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Introduction
Structure
Domains
GRD domain
SEC-PH
CSRD and CTD
Important Structural Features
Active Site
Arginine Finger
Conformations
RAS Complex
Mechanism of Ras Coupled with Neurofibromin
Downstream Effects
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 by Group, and another to make of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes.
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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.
