产品货号:jlcR23830 英文名称 :APRT 中文名称 :腺嘌呤磷酸核糖转移酶抗体 别 名 :Adenine phosphoribosyltransferase; AMP; AMP diphosphorylase; AMP pyrophosphorylase; APRT; APT_HUMAN; DKFZp686D13177; MGC125856; MGC125857; MGC129961; Transphosphoribosidase. 研究领域 :肿瘤 细胞生物 免疫学 神经生物学 新陈代谢 抗体来源 :Rabbit 克隆类型 :Polyclonal 交叉反应 :Human, Mouse, Rat, Pig, 产品应用 :WB=1:500-2000 ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 (石蜡切片需做抗原修复) not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. 分 子 量 :19kDa 细胞定位 :细胞浆 性 状 :Lyophilized or Liquid 浓 度 :1mg/1ml 免 疫 原 :KLH conjugated synthetic peptide derived from human APRT:171-270/574 <Extracellular> 亚 型 :IgG 纯化方法 :affinity purified by Protein A 储 存 液 :0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. 保存条件 :Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. PubMed :PubMed 产品介绍 : APRT is a 180 amino acid protein that localizes to the cytoplasm and belongs to the purine/pyrimidine phosphoribosyltransferase family. Existing as a homodimer, APRT functions to catalyze the formation of inorganic pyrophosphate and AMP from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP), a reaction that is essential for both purine metabolism and AMP biosynthesis. Defects in the gene encoding APRT are the cause of APRT deficiency, also known as 2,8-dihydroxyadenine urolithiasis, which is an autosomal recessive disease that results in renal failure. The gene encoding APRT maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.
Function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Subunit: Homodimer.
Subcellular Location: Cytoplasm.
DISEASE: Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]; also known as 2,8-dihydroxyadenine urolithiasis. An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
Similarity: Belongs to the purine/pyrimidine phosphoribosyltransferase family.
SWISS: P07741
Gene ID: 353
Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.