Neurofibromin: Difference between revisions
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[[Image:Ras mechanism.jpg|400 px|right|thumb|Figure 1: The catalytic glutamine stabilizes the nucleophilic water.]] | [[Image:Ras mechanism.jpg|400 px|right|thumb|Figure 1: The catalytic glutamine stabilizes the nucleophilic water.]] | ||
===Downstream Effects=== | ===Downstream Effects=== | ||
[[Image:Signal_transduction_pathways.png|400 px|right|thumb|Figure | [[Image:Signal_transduction_pathways.png|400 px|right|thumb|Figure 2; By cybertory - This file was derived from: Signal transduction v1.png, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=12081090]] | ||
The NF1 gene that neurofibromin encodes has a high mutation rate, however it is difficult to detect the mutations because of how large the protein is and how randomly the mutations are distributed across the protein. Many of the mutations have been detected in the catalytic Gap-related domain. Misregulated Ras activity can lead to uncontrolled signaling in many different cell signaling pathways. Figure 2 provides an overview of the pathways that are connected to Ras, such as the MEK pathway. Eventually, the pathways relate to gene regulation and cell proliferation. If Ras is hyperactive, cell overgrowth and cancer can result. A focus of drug design is the suppression of Ras and its downstream signaling pathways. | The NF1 gene that neurofibromin encodes has a high mutation rate, however it is difficult to detect the mutations because of how large the protein is and how randomly the mutations are distributed across the protein. Many of the mutations have been detected in the catalytic Gap-related domain. Misregulated Ras activity can lead to uncontrolled signaling in many different cell signaling pathways. Figure 2 provides an overview of the pathways that are connected to Ras, such as the MEK pathway. Eventually, the pathways relate to gene regulation and cell proliferation. If Ras is hyperactive, cell overgrowth and cancer can result. A focus of drug design is the suppression of Ras and its downstream signaling pathways. | ||
