HPRT1, Recombinant Protein

Hypoxanthine-guanine phosphoribosyltransferase; GPRT; HGPRTase; HPRT

For Research Use Only. Not for use in diagnostic procedures.

E Coli
Source: Human

>=95%

Liquid
In 20 mM Tris-HCl buffer (pH 8.0) containing 20% glycerol

0.5 mg/ml (lot specific)

Store at -20 degree C for 12 months.
Centrifuge the vial prior to opening.

Small volumes of HPRT1 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Hypoxanthine-guanine phosphoribosyltransferase; also known as HPRT1 has a central role in the generation of purine nucleotides through the purine salvage pathway. The enzyme primarily functions to salvage purines from degraded DNA to renewed purine synthesis. In this role; it acts as a catalyst in the reaction between guanine and phosphoribosyl pyrophosphate to form GMP. Recombinant human HPRT1; fused to His-tag at N-terminus; was expressed in E Coli and purified by using conventional chromatography techniques.

SDS-PAGE

26.7 kDa

hypoxanthine phosphoribosyltransferase 1

hypoxanthine-guanine phosphoribosyltransferase

Hypoxanthine-guanine phosphoribosyltransferase

HPRT; HGPRT; HGPRTase  [Similar Products]

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]

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: GMP catabolic process; guanine salvage; hypoxanthine metabolic process; hypoxanthine salvage; IMP metabolic process; positive regulation of dopamine metabolic process; protein homotetramerization; purine nucleotide biosynthetic process; purine ribonucleoside salvage; purine salvage

Disease: Kelley-seegmiller Syndrome; Lesch-nyhan Syndrome

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