ATIC(5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase),癌症关联基因,基因ID:471,该基因编码一种双功能蛋白,对从头嘌呤生物合成途径的最后两个步骤进行催化。N-末端结构域具有磷酸核糖氨基咪唑甲酰胺甲酰转移酶活性,C-末端结构域具有IMP环水解酶活性。该基因突变导致AICA核糖尿症。[由RefSeq提供,2009年9月]This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]。