该基因编码的蛋白是嘧啶分解代谢酶,是尿嘧啶和胸腺嘧啶分解代谢途径的起始和限速因子。该基因突变导致二氢嘧啶脱氢酶缺乏,嘧啶代谢错误与胸腺嘧啶尿嘧啶尿有关,癌症患者接受5-氟尿嘧啶化疗后毒性增加。两个编码不同亚型的转录变体已经被发现。
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.

基因名:DPYD
别名:DHP,DHPDHASE,DPD
基因ID:1806
Chromosome:
(GRCh37)
1 Start: 97543299 End: 98386605 Strand: -1
信号通路: 基因组不稳定  能量代谢 
靶向药: 卡培他滨 
化疗药: 氟尿嘧啶 氟特嗪 
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