Gene Symbol | ATIC |
Entrez Gene ID | 471 |
Full Name | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
Synonyms | AICAR,AICARFT,HEL-S-70p,IMPCHASE,PURH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | AICA-ribosiduria due to ATIC deficiency, 608688 (3) |