Overview

Description

  • NatureRecombinant
  • SourceEscherichia coli
  • Amino Acid Sequence
    • AccessionP00492
    • SpeciesHuman
    • SequenceMGSSHHHHHH SSGLVPRGSH MATRSPGVVI SDDEPGYDLD LFCIPNHYAE DLERVFIPHG LIMDRTERLA RDVMKEMGGH HIVALCVLKG GYKFFADLLD YIKALNRNSD RSIPMTVDFI RLKSYCNDQS TGDIKVIGGD DLSTLTGKNV LIVEDIIDTG KTMQTLLSLV RQYNPKMVKV ASLLVKRTPR SVGYKPDFVG FEIPDKFVVG YALDYNEYFR DLNHVCVISE TGKAKYKA
    • Molecular weight27 kDa including tags
    • Amino acids1 to 218
    • TagsHis tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab117153 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

  • Purity> 95 % SDS-PAGE.
    ab117153 was purified by proprietary chromatographic techniques and filter sterilized.
  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.32% Tris HCl, 20% Glycerol

General Info

  • Alternative names
    • HGPRT
    • HGPRTase
    • HPRT 1
    • HPRT_HUMAN
    • HPRT1
    • Hypoxanthine guanine phosphoribosyltransferase
    • Hypoxanthine phosphoribosyltransferase 1
    • Hypoxanthine phosphoribosyltransferase 1 (Lesch Nyhan syndrome)
    • Hypoxanthine-guanine phosphoribosyltransferase
    see all
  • FunctionConverts 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.
  • PathwayPurine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1.
  • Involvement in diseaseDefects 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.
  • Sequence similaritiesBelongs to the purine/pyrimidine phosphoribosyltransferase family.
  • Cellular localizationCytoplasm.
  • Information by UniProt

References for Recombinant Human HPRT protein (ab117153)

ab117153 has not yet been referenced specifically in any publications.

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