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Product Name HPRT1 Chinese Name 次黄嘌呤磷酸核糖基转移酶1单克隆抗体 Alias HGPRT; HGPRTase; HPRT 1; HPRT_HUMAN; HPRT1; Hypoxanthine guanine phosphoribosyltransferase; Hypoxanthine phosphoribosyltransferase 1 (Lesch Nyhan syndrome); Hypoxanthine phosphoribosyltransferase 1; Hypoxanthine-guanine phosphoribosyltransferase; HPRT_HUMAN. Research Area Cell biology immunology Epigenetics Immunogen Species Mouse Clonality Monoclonal Clone NO. 1C4 React Species (predicted: Human, ) Applications WB=1:500-2000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 24kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human HPRT1 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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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