Sandbox Reserved 1706: Difference between revisions
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==SPRED 1== | ==SPRED 1== | ||
SPRED 1 is a protein that binds to the GAPex domain of Neurofibromin. Its function recruits the Neurofibromin protein when bound from the cytosol to the plasma membrane. SPRED 1 will bind to the GAPex domain of Neurofibromin in the <scene name='90/904312/Sped-1_closed/7'>closed conformation'</scene> in the cytosol to recruit Neurofibromin to the plasma membrane. Unlike Ras, SPRED-1 does show the ability to <scene name='90/904312/Spred-1_open/1'>bind to the open conformation</scene>. When bound to the open conformation of Neurofibromin in the cytosol, it may present a different orientation that impacts the recruitment to the plasma membrane. Further research is needed to assess the impact of the function and the changes it may present. | SPRED 1 is a protein that binds to the GAPex domain of Neurofibromin. Its function recruits the Neurofibromin protein when bound from the cytosol to the plasma membrane. SPRED 1 will bind to the GAPex domain of Neurofibromin in the <scene name='90/904312/Sped-1_closed/7'>closed conformation'</scene> in the cytosol to recruit Neurofibromin to the plasma membrane. Unlike Ras, SPRED-1 does show the ability to <scene name='90/904312/Spred-1_open/1'>bind to the open conformation</scene>. When bound to the open conformation of Neurofibromin in the cytosol, it may present a different orientation that impacts the recruitment to the plasma membrane. Further research is needed to assess the impact of the function and the changes it may present. | ||
==Future Clinical Relevance== | |||
Germline mutations are common in NF1, often causing genetic tumor syndrome through misregulation of the Ras signaling pathway. Somatic mutations among NF1 are also extremely common. In germline mutations and some somatic mutations of NF1, clinical findings show tumors that develop often along the deep epidermis layer of the skin. The most common among NF1 mutations is Neurofibroma. Physically, soft skin-colored pink papules develop on the extremities or on the neck. Also in patients they become prevalent during puberty. Among germline mutations Neurofibroma seems to be the most well known, other tumors may also be common. Lisch Nodules are also common in the development of melanoma within melanocytes as a result of NF1 mutations. Plexiform Neurofibroma and Optic Glioma also are tumor based syndromes resulting from these germline mutations. Increased risk in cancer for patients with mutations to NF1 is about 4 fold greater. Treatment options do exist for patients involving a multitude of drug based treatments coupled with chemotherapy. Surgery and laser treatments are also common. | |||
Mutations to NF1 in the critical interaction involved in the GRD active site with R1276, structurally and functionally prove why they can cause cancer, as Ras is no longer mediated. The importance of this residue when binding to Ras may be able to contribute to future studies in potentially mimicking this arginine finger when bound to Ras, in cases where mutations would impact R1276 in its normal function. Observing the nature of NF1 can further drug development and further improve what is already known about NF1. | |||
==References placeholders== | ==References placeholders== | ||
<ref name="Bergoug"> DOI:10.3390/cells9112365</ref> | <ref name="Bergoug"> DOI:10.3390/cells9112365</ref> | ||
