腺嘌呤磷酸核糖转移酶抗体
规格：1尘驳/1尘濒
英文名： APRT
别名： Adenine phosphoribosyltransferase; AMP; AMP diphosphorylase; AMP pyrophosphorylase; APRT; APT_HUMAN; DKFZp686D13177; MGC125856; MGC125857; MGC129961; Transphosphoribosidase.
分子量： 19kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human APRT
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Sheep,
细胞定位：细胞浆
腺嘌呤磷酸核糖转移酶抗体产物介绍：background: 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 腺嘌呤磷酸核糖转移酶抗体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:腺嘌呤磷酸核糖转移酶抗体 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. Database links: UniProtKB/Swiss-Prot: P07741.2 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
腺嘌呤磷酸核糖转移酶抗体产物应用：ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 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.
研究领域：肿瘤 细胞生物 **学 神经生物学 新陈代谢
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid