AICAR甲酰基转移酶抗体

AICAR甲酰基转移酶抗体 Background: 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. Also known as: AICAR transformylase; 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 bifunctional enzyme; AICARFT; AICARFT/IMPCHASE; ATIC; Bifunctional 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.AICAR甲酰基转移酶抗体