Biology:GRHPR
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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
- ↑ "Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase". Biochim Biophys Acta 1446 (3): 383–8. Nov 1999. doi:10.1016/S0167-4781(99)00105-0. PMID 10524214.
- ↑ "The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II". Hum Mol Genet 8 (11): 2063–9. Dec 1999. doi:10.1093/hmg/8.11.2063. PMID 10484776.
- ↑ 3.0 3.1 "Entrez Gene: GRHPR glyoxylate reductase/hydroxypyruvate reductase". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=9380.
- ↑ "Modification of primers for GRHPR genotyping: avoiding allele dropout by single nucleotide polymorphisms and homology sequence.". Urol Res. 36 (6): 297–302. Dec 2008. doi:10.1007/s00240-008-0159-z. PMID 18982322.
External links
Further reading
- "A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2". Nephrol. Dial. Transplant. 22 (8): 2371–4. 2007. doi:10.1093/ndt/gfm271. PMID 17510093.
- "Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase". J. Mol. Biol. 360 (1): 178–89. 2006. doi:10.1016/j.jmb.2006.05.018. PMID 16756993.
- "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. 2006. doi:10.1093/nar/gkj139. PMID 16381901.
- "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. 2004. doi:10.1101/gr.2576704. PMID 15489336.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "A Protein Interaction Framework for Human mRNA Degradation". Genome Res. 14 (7): 1315–23. 2004. doi:10.1101/gr.2122004. PMID 15231747.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. 2001. doi:10.1093/embo-reports/kvd058. PMID 11256614.
- "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. 2001. doi:10.1101/gr.143000. PMID 11076863.
- "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. doi:10.1007/s004390000351. PMID 11030416.
- "Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q". Biochem. Biophys. Res. Commun. 268 (2): 298–301. 2000. doi:10.1006/bbrc.2000.2122. PMID 10679197.
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