GRHPR

Glyoxylate reductase/hydroxypyruvate reductase
PDB rendering based on 2gcg.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2GCG​, 2H1S​, 2Q50​, 2WWR​
Identifiers
Symbols	GRHPR ; GLXR; GLYD; PH2
External IDs	OMIM: 604296 MGI: 1923488 HomoloGene: 49088 GeneCards: GRHPR Gene
EC number	1.1.1.79, 1.1.1.81
Gene ontology Molecular function • glycerate dehydrogenase activity • hydroxypyruvate reductase activity • glyoxylate reductase (NADP) activity • carboxylic acid binding • protein homodimerization activity • NAD binding • NADPH binding Cellular component • cytoplasm • peroxisomal matrix • cytosol • extracellular exosome Biological process • excretion • metabolic process • cellular nitrogen compound metabolic process • dicarboxylic acid metabolic process • small molecule metabolic process • glyoxylate metabolic process • protein oligomerization • oxidation-reduction process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	9380	76238
Ensembl	ENSG00000137106	ENSMUSG00000035637
UniProt	Q9UBQ7	Q91Z53
RefSeq (mRNA)	NM_012203	NM_080289
RefSeq (protein)	NP_036335	NP_525028
Location (UCSC)	Chr 9: 37.42 – 37.44 Mb	Chr 4: 44.98 – 44.99 Mb
PubMed search

Glyoxylate reductase/hydroxypyruvate reductase is an enzyme that in humans is encoded by the GRHPR gene.^[1][2][3]

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]

References

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

External links

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

Further reading

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