产品货号 :  mlR23830

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. 

产品图片