Entrez gene ID | | 471 |
Official gene symbol | | ATIC |
Full name | | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
Aliases | | ,AICAR,AICARFT,FLJ93545,IMPCHASE,PURH, |
Gene 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] |
Location | | Chromosome: 2 Locus: 2q35 |
Gene position | | 216176679 - 216214496 Map Viewer |
Gene orientation | | plus |
Gene size | | 37818 bp |
Gene sequence |
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OMIM ID | | 601731 |