Neuropathology : official journal of the Japanese Society of Neuropathology
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Neurofibromatosis type 2 is caused by mutations in the NF2 tumor suppressor gene. The NF2 gene encodes a 595-aminoacid protein, presumably functioning as a membrane-organizing element. Theoretically, the majority of mutations found in the NF2 gene should lead to a truncated protein product. ⋯ From two tumors no protein was precipitated. Truncated NF2 proteins were not observed. The authors conclude that mutant NF2 proteins are unstable and undergo accelerated degradation.