catalytic activity:10-formyltetrahydrofolate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide = tetrahydrofolate + 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.,catalytic activity:IMP + H(2)O = 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.,disease:Defects in ATIC are the cause of AICA-ribosuria [MIM:608688]; also known as AICA-ribosiduria. AICA-ribosuria is a neurologically devastating inborn error of purine biosynthesis. AICA-ribosuria patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICA-ribosuria causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.,domain:The IMP cyclohydrolase activity resides in the N-terminal region.,pathway:Purine metabolism; IMP biosynthesis via de novo pathway; 5-formamido-1-(5-phospho-D-ribosy

非质量问题不退换