The bifunctional purine biosynthesis protein ATIC (also designated PURH) contains AICAR transformylase and IMP cyclohydrolase activities. AICAR (5-aminoimidazole-4-carboxamide ribonucleotide) transformylase catalyzes the second to last step in purine biosynthesis, playing an important role in the production of nucleotides and IMP. Defects in the ATIC transformylase gene can cause AICA-rebsuria, also designated AICA-ribosiduria, an inborn error in purine biosynthesis that is neurologically cataclysmic. Individuals with AICA-rebosuria accumulate AICA-riboside, also designated ZMP, and its derivatives in erythrocytes and fibroblasts. Patients also excrete very large amounts of AICA-riboside in the urine. Mental retardation, epilepsy, dysmorphic features and congenital blindness are all symptoms of this disease.
Synonyms: 5 aminoimidazole 4 carboxamide 1 beta D ribonucleotide transformylase/inosinicase, 5 aminoimidazole 4 carboxamide ribonucleotide formyltransferase, 5 aminoimidazole 4 carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase, 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase, AICAR, AICAR formyltransferase/IMP cyclohydrolase bunctional enzyme, AICAR transformylase, AICARFT, AICARFT/IMPCHASE, ATIC, Bunctional purine biosynthesis protein PURH, FLJ93545, IMP cyclohydrolase, IMP synthase, IMP synthetase, IMPCHASE, Inosinicase, OK/SW-cl.86, Phosphoribosylaminoimidazolecarboxamide formyltransferase, Phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase, PUR9_HUMAN, PURH.