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  • 發布時間:2022-07-19 14:11 原文鏈接: 受體酪氨酸激酶信號通路相關NF1

    該基因產物似乎是ras信號轉導途徑的負調節因子。該基因突變與1型神經纖維瘤病、少年骨髓單核細胞白血病和華生綜合征有關。該基因的mRNA受到RNA編輯(cga>uga->arg1306term)的影響,導致翻譯提前終止。另外,還描述了編碼不同亞型的剪接轉錄變體。
    This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene.

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