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ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

Also known as: PURH; AICAR; AICARFT; IMPCHASE; HEL-S-70p

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]

Genomic context

Location:
2q35
Sequence:
Chromosome: 2; NC_000002.12 (215311956..215349773)
Total number of exons:
16

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