Hypoxanthine-Guanine Phosphoribosyltransferase Active Protein | HPRT1 active protein
Recombinant Human Hypoxanthine-Guanine Phosphoribosyltransferase, Active
HPRT1 protein solution (0.5mg/ml) containing 20mM Tris-HCl buffer (pH 8.0) and 20% glycerol.
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
HPRT1: 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. Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS). 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); also known as HPRT-related gout or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia. Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Protein type: Cell development/differentiation; EC 2.4.2.8; Nucleotide Metabolism - purine; Transferase; Xenobiotic Metabolism - drug metabolism - other enzymes
Chromosomal Location of Human Ortholog: Xq26.2-q26.3
Cellular Component: cytoplasm; cytosol
Molecular Function: hypoxanthine phosphoribosyltransferase activity; identical protein binding; magnesium ion binding; protein binding; protein homodimerization activity
Biological Process: adenine salvage; GMP catabolic process; GMP salvage; guanine salvage; hypoxanthine metabolic process; hypoxanthine salvage; IMP metabolic process; IMP salvage; positive regulation of dopamine metabolic process; protein homotetramerization; purine nucleotide biosynthetic process; purine ribonucleoside salvage; purine salvage
Disease: Kelley-seegmiller Syndrome; Lesch-nyhan Syndrome
Research Articles on HPRT1
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Product Notes
The HPRT1 hprt1 (Catalog #AAA146777) is an Active Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: MGSSHHH HHH SSGLVPRGSH MATRSPGVVI SDDEPGYDLD LFCIPNHYAE DLERVFIPHG LIMDRTERLA RDVMKEMGGH HIVALCVLKG GYKFFADLLD YIKALNRNSD RSIPMTVDFI RLKSYCNDQS TGDIKVIGGD DLSTLTGKNV LIVEDIIDTG KTMQTLLSLV RQYNPKMVKV ASLLVKRTPR SVGYKPDFVG FEIPDKFVVG YALDYNEYFR DLNHVCVISE TGKAKYKA. It is sometimes possible for the material contained within the vial of "Hypoxanthine-Guanine Phosphoribosyltransferase, Active Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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