• 靶点：
• ATIC

• 简介：
• >>Purine metabolism;>>One carbon pool by folate;>>Metabolic pathways;>>Antifolate resistance

• 基因名称：
• atic

• Human Gene Id：
• 471

• Human Swiss Prot No：
• P31939

• Mouse Swiss Prot No：
• Q9CWJ9

• 免疫原：
• Purified recombinant human ATIC protein fragments expressed in E.coli.

• 特异性：
• This antibody detects endogenous levels of ATIC and does not cross-react with related proteins.

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Monoclonal, Mouse

• 稀释：
• wb 1:1000

• 纯化工艺：
• The antibody was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 其他名称：
• 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;AICAR transformylase;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.

• 实测条带：
• 64kD

• 背景：
• 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],

• 功能：
• catalytic activity:10-formyltetrahydrofolate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide = tetrahydrofolate + 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.,catalytic activity:IMP + H(2)O = 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.,disease:Defects in ATIC are the cause of AICA-ribosuria [MIM:608688]; also known as AICA-ribosiduria. AICA-ribosuria is a neurologically devastating inborn error of purine biosynthesis. AICA-ribosuria patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICA-ribosuria causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.,domain:The IMP cyclohydrolase activity resides in the N-terminal region.,pathway:Purine metabolism; IMP biosynthesis via de novo pathway; 5-formamido-1-(5-phospho-D-ribosy

• 细胞定位：
• mitochondrion,cytosol,cell-cell adherens junction,membrane,extracellular exosome,

• 组织表达：
• Present in the heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas.

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