UPB1 - beta-ureidopropionase 1 Gene

中文名称：β-脲基丙酸酶 1

种属: Homo sapiens

同用名: BUP1

关于 UPB1

功能概要

该基因编码一种属于 CN 水解酶家族的蛋白质。 β-脲基丙酸酶催化嘧啶降解途径的最后一步。嘧啶碱基尿嘧啶和胸腺嘧啶通过二氢嘧啶脱氢酶 (DHPDH) 、二氢嘧啶酶 (DHP) 和 β-脲基丙酸酶 (UP) 的连续作用分别降解为 β-丙氨酸和 β-氨基异丁酸。 UP 缺乏与 N-氨甲酰-β-氨基酸尿症有关，并可能导致神经活动异常。[RefSeq 提供，2008 年 7 月]

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]