Neurofibromin: Difference between revisions
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Mutations to the neurofibromin protein are implicated in the progression of Neurofibromatosis type 1 (NF1). 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<ref name= ''Lupton''>PMID:34887559</ref>. NF1 primarily causes tumors in the central and peripheral nervous systems, but often has a multisystem expression including tumors in the dermatologic, cardiovascular, gastrointestinal, and orthopedic systems<ref name= ''Cimino''>PMID:29478615</ref>. The wide range of presentations is consistent with the multiplicity of mutations observed in the causative protein<ref name= ''Ly''>PMID:31582003</ref>. | Mutations to the neurofibromin protein are implicated in the progression of Neurofibromatosis type 1 (NF1). 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<ref name= ''Lupton''>PMID:34887559</ref>. NF1 primarily causes tumors in the central and peripheral nervous systems, but often has a multisystem expression including tumors in the dermatologic, cardiovascular, gastrointestinal, and orthopedic systems<ref name= ''Cimino''>PMID:29478615</ref>. The wide range of presentations is consistent with the multiplicity of mutations observed in the causative protein<ref name= ''Ly''>PMID:31582003</ref>. | ||
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. | ||
<scene name='90/904326/Open_conformation/2'>Open Conformation</scene>, | |||
<scene name='90/904326/Open_conformation_with_grd_hig/2'>Open Conformation with GRD highlighted</scene> | |||
<scene name='90/904326/Closed_conformation/2'>Closed Conformation</scene>, | |||
<scene name='90/904326/Grd_closed_conformation/2'>Closed Conformation with GRD highlighted</scene> | |||
<scene name='90/904326/Sec15ph_and_grd_open/2'>sec14ph domain in Open Conformation</scene> | |||
<scene name='90/904326/Sec14ph_and_grd_closed/2'>sec14ph domain in Closed Conformation</scene> | |||
<scene name='90/904326/Active_site_with_residues/6'>active site</scene> | |||
</StructureSection> | </StructureSection> | ||
