Protein Name 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Organism Homo sapiens
Gene ID 471
Gene Symbol

ATIC

UniProt P31939 (PUR9_HUMAN), V9HWH7 (V9HWH7_HUMAN)
Relationships Total Number of functionally related compound(s) : 229
Total Number of Articles : 238
Description

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

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, Sep 2009]

synonyms
  • bifunctional purine biosynthesis protein ATIC
  • 5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase
  • AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme
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Properties