UPB1
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=734439
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资源简介：
This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]
本基因编码一种属于CN水解酶家族的蛋白质。β-脒基丙酸酶催化嘧啶降解途径的最终步骤。嘧啶碱基尿嘧啶和胸腺嘧啶分别通过二氢嘧啶脱氢酶（DHPDH）、二氢嘧啶酶（DHP）和β-脒基丙酸酶（UP）的连续作用降解为β-丙氨酸和β-氨基异丁酸。UP的缺乏与N-羰基β-氨基酸尿症相关，并可能导致神经系统活动的异常。[由RefSeq提供，2008年7月]
提供机构：
Rat Genome Database
