Login
Login

GRHPR

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Glyoxylate reductase/hydroxypyruvate reductase is an enzyme that in humans is encoded by the GRHPR gene.{{cite journal |vauthors=Rumsby G, Cregeen DP | title = Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase | journal = Biochim Biophys Acta | volume = 1446 | issue = 3 | pages = 383–8 |date=Nov 1999 | pmid = 10524214 | doi = 10.1016/S0167-4781(99)00105-0}}{{cite journal |vauthors=Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP | title = The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II | journal = Hum Mol Genet | volume = 8 | issue = 11 | pages = 2063–9 |date=Dec 1999 | pmid = 10484776 | doi =10.1093/hmg/8.11.2063 | doi-access = }}

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.{{cite web | title = Entrez Gene: GRHPR glyoxylate reductase/hydroxypyruvate reductase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9380}} GRHPR mutation analysis needs to pay attention to primer design, because allele dropout can cause false-positive result.{{cite journal |vauthors=Takaoka N, Takayama T, Miyazaki M, Nagata M, Ozono S | title = Modification of primers for GRHPR genotyping: avoiding allele dropout by single nucleotide polymorphisms and homology sequence. | journal = Urol Res. | volume = 36 | issue = 6 | pages = 297–302 |date=Dec 2008 | pmid = 18982322 | doi = 10.1007/s00240-008-0159-z | s2cid = 12234158 }}

References

{{Reflist}}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ph2 GeneReviews/NCBI/NIH/UW entry on Primary Hyperoxaluria Type 2]

Further reading

{{Refbegin | 2}}

  • {{Cite journal |vauthors=Takayama T, Nagata M, Ozono S, etal |title=A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2 |journal=Nephrol. Dial. Transplant. |volume=22 |issue= 8 |pages= 2371–4 |year= 2007 |pmid= 17510093 |doi= 10.1093/ndt/gfm271 | pmc=2413148 }}
  • {{Cite journal |vauthors=Booth MP, Conners R, Rumsby G, Brady RL |title=Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase |journal=J. Mol. Biol. |volume=360 |issue= 1 |pages= 178–89 |year= 2006 |pmid= 16756993 |doi= 10.1016/j.jmb.2006.05.018 }}
  • {{Cite journal |vauthors=Mehrle A, Rosenfelder H, Schupp I, etal |title=The LIFEdb database in 2006 |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 }}
  • {{Cite journal |vauthors=Wiemann S, Arlt D, Huber W, etal |title=From ORFeome to Biology: A Functional Genomics Pipeline |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 }}
  • {{Cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
  • {{Cite journal |vauthors=Lehner B, Sanderson CM |title=A Protein Interaction Framework for Human mRNA Degradation |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315–23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004 | pmc=442147 }}
  • {{Cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
  • {{Cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{Cite journal |vauthors=Simpson JC, Wellenreuther R, Poustka A, etal |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 | pmc=1083732 }}
  • {{Cite journal |vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA Cloning Using In Vitro Site-Specific Recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 | pmc=310948 }}
  • {{Cite journal |vauthors=Webster KE, Ferree PM, Holmes RP, Cramer SD |title=Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2) |journal=Hum. Genet. |volume=107 |issue= 2 |pages= 176–85 |year= 2000 |pmid= 11030416 |doi=10.1007/s004390000351 |s2cid=10574729 }}
  • {{Cite journal |vauthors=Huang T, Yang W, Pereira AC, etal |title=Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q |journal=Biochem. Biophys. Res. Commun. |volume=268 |issue= 2 |pages= 298–301 |year= 2000 |pmid= 10679197 |doi= 10.1006/bbrc.2000.2122 }}

{{Refend}}

{{PDB Gallery|geneid=9380}}

{{Alcohol oxidoreductases}}

{{gene-9-stub}}