基因名：
ATIC
产品别名：
AICAR； AICARFT； HEL-S-70p； IMPCHASE； PURH； ATIC； 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase； 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase； bifunctional purine biosynthesis protein ATIC； 5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase； AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme； AICAR transformylase/inosine monophosphate cyclohydrolase； AICARFT/IMPCHASE； bifunctional purine biosynthesis protein PURH； epididymis secretory sperm binding protein Li 70p； phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase； AICAR甲酰基转移酶；
背景信息：
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.
