The bifunctional purine biosynthesis protein PURH contains phosphoribosylaminoimidazole carboxamide formyltransferase, also designated AICAR transformylase, IMP cyclohydrolase or Inosinicase. AICAR plays an important role in purine biosynthesis, specifically in the production of nucleotides and IMP. Defects in ATIC, the gene encoding for this protein, can cause AICArebosuria, also designated AICA-ribosiduria, an inborn error in purine biosynthesis that is neurologically cataclysmic. Individuals with AICA-rebosuria accumulate AICA-ribotide, also designated ZMP, and its derivatives in erythrocytes and fibroblasts and 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.
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