GRHPR explained

Glyoxylate reductase/hydroxypyruvate reductase is an enzyme that in humans is encoded by the GRHPR gene.^{[1] [2]}

This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene.^[3] GRHPR mutation analysis needs to pay attention to primer design, because allele dropout can cause false-positive result.^[4]

External links

• GeneReviews/NCBI/NIH/UW entry on Primary Hyperoxaluria Type 2

Further reading

• Takayama T, Nagata M, Ozono S, etal . A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2 . Nephrol. Dial. Transplant. . 22 . 8 . 2371–4 . 2007 . 17510093 . 10.1093/ndt/gfm271 . 2413148 .
• Booth MP, Conners R, Rumsby G, Brady RL . Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase . J. Mol. Biol. . 360 . 1 . 178–89 . 2006 . 16756993 . 10.1016/j.jmb.2006.05.018 .
• Mehrle A, Rosenfelder H, Schupp I, etal . The LIFEdb database in 2006 . Nucleic Acids Res. . 34 . Database issue . D415–8 . 2006 . 16381901 . 10.1093/nar/gkj139 . 1347501 .
• Wiemann S, Arlt D, Huber W, etal . From ORFeome to Biology: A Functional Genomics Pipeline . Genome Res. . 14 . 10B . 2136–44 . 2004 . 15489336 . 10.1101/gr.2576704 . 528930 .
• Gerhard DS, Wagner L, Feingold EA, etal . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Lehner B, Sanderson CM . A Protein Interaction Framework for Human mRNA Degradation . Genome Res. . 14 . 7 . 1315–23 . 2004 . 15231747 . 10.1101/gr.2122004 . 442147 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Simpson JC, Wellenreuther R, Poustka A, etal . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing . EMBO Rep. . 1 . 3 . 287–92 . 2001 . 11256614 . 10.1093/embo-reports/kvd058 . 1083732 .
• Hartley JL, Temple GF, Brasch MA . DNA Cloning Using In Vitro Site-Specific Recombination . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .
• Webster KE, Ferree PM, Holmes RP, Cramer SD . Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2) . Hum. Genet. . 107 . 2 . 176–85 . 2000 . 11030416 . 10.1007/s004390000351 . 10574729 .
• Huang T, Yang W, Pereira AC, etal . Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q . Biochem. Biophys. Res. Commun. . 268 . 2 . 298–301 . 2000 . 10679197 . 10.1006/bbrc.2000.2122 .

Notes and References

1. Rumsby G, Cregeen DP . Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase . Biochim Biophys Acta . 1446 . 3 . 383–8 . Nov 1999 . 10524214 . 10.1016/S0167-4781(99)00105-0.
2. Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP . The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II . Hum Mol Genet . 8 . 11 . 2063–9 . Dec 1999 . 10484776 . 10.1093/hmg/8.11.2063 .
3. Web site: Entrez Gene: GRHPR glyoxylate reductase/hydroxypyruvate reductase.
4. Takaoka N, Takayama T, Miyazaki M, Nagata M, Ozono S . Modification of primers for GRHPR genotyping: avoiding allele dropout by single nucleotide polymorphisms and homology sequence. . Urol Res. . 36 . 6 . 297–302 . Dec 2008 . 18982322 . 10.1007/s00240-008-0159-z . 12234158 .