The NF1 gene, located on chromosome 17, encodes the neurofibromin protein, which is a tumor suppressor. Neurofibromin plays a critical role in regulating cell growth and differentiation, particularly in the nervous system.
Neurofibromin acts as a tumor suppressor by negatively regulating the Ras signaling pathway. When NF1 is expressed normally, it helps control cell proliferation and survival. Loss or reduction of NF1 expression can lead to increased Ras activity, promoting uncontrolled cell growth and tumorigenesis.
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