基因名:
UPB1
产品别名:
BUP1; UPB1; beta-ureidopropionase 1; beta-ureidopropionase 1; beta-ureidopropionase; beta-alanine synthase; n-carbamoyl-beta-alanine amidohydrolase; ureidopropionase, beta; 脲酰丙酸酶β(UPB1);
背景信息:
β-Ureidopropionase is a cytoplasmic protein which belongs to the CN hydrolase family of BUP subfamily. β-Ureidopropionase binds one zinc ion per subunit, catalyzes the last step in the pyrimidine degradation pathway. β-Ureidopropionase can convert N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to beta-aminoisobutyric acid and beta-alanine, ammonia and carbon dioxide, respectively. 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. Defects in β-Ureidopropionase are the cause of β-Ureidopropionase deficiency that is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay.