5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Alias
AICAR | AICARFT | HEL-S-70p | IMPCHASE | PURH
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].