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AICAR / ATIC is 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.
Gene Name: | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
Synonyms: | ATIC, AICAR, AICARFT, IMPCHASE, PURH |
Target Sequences: | NM_004044 NP_004035.2 P31939 |
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