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]
Alternative Names
5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme AICAR transformylase/inosine monophosphate cyclohydrolase bifunctional purine biosynthesis protein PURH bifunctional purine biosynthesis protein PURH-like epididymis secretory sperm binding protein Li 70p phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase