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HPRT1 Mouse mAb (bsm-51168M)  
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50ul/1180.00元
100ul/1980.00元
大包裝/詢價
產(chǎn)品編號 bsm-51168M
英文名稱 HPRT1 Mouse mAb
中文名稱 次黃嘌呤磷酸核糖基轉移酶1單克隆抗體
別    名 HGPRT; HGPRTase; HPRT 1; HPRT_HUMAN; HPRT1; Hypoxanthine guanine phosphoribosyltransferase; Hypoxanthine phosphoribosyltransferase 1(Lesch Nyhan syndrome); Hypoxanthine phosphoribosyltransferase 1; Hypoxanthine-guanine phosphoribosyltransferase; HPRT_HUMA  
研究領域 細胞生物  免疫學  表觀遺傳學  
抗體來源 Mouse
克隆類型 Monoclonal
克 隆 號 1C4
交叉反應 Human
產(chǎn)品應用 WB=1:500-2000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 24 kDa
檢測分子量
細胞定位 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human HPRT1 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產(chǎn)品介紹 The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009].

Function:
Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.

Subunit:
Homotetramer.

Subcellular Location:
Cytoplasm.

DISEASE:
Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS) [MIM:300322]. LNS is characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.
Defects in HPRT1 are the cause of gout HPRT-related (GOUT-HPRT) [MIM:300323]; also known as HPRT-related gout or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia.

Similarity:
Belongs to the purine/pyrimidine phosphoribosyltransferase family.

SWISS:
P00492

Gene ID:
3251

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