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  • 發布時間:2022-09-06 14:13 原文鏈接: 實體腫瘤檢測DPYD基因介紹

    該基因編碼的蛋白是嘧啶分解代謝酶,是尿嘧啶和胸腺嘧啶分解代謝途徑的起始和限速因子。該基因突變導致二氫嘧啶脫氫酶缺乏,嘧啶代謝錯誤與胸腺嘧啶尿嘧啶尿有關,癌癥患者接受5-氟尿嘧啶化療后毒性增加。兩個編碼不同亞型的轉錄變體已經被發現。

    The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene.

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