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Homo sapiens glyoxylate reductase/hydroxypyruvate reductase (GRHPR), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_012203 Homo sapiens glyoxylate reductase/hydroxypyruvate reductase (GRHPR), mRNA. GenEZ ORF Cloning On-demand $549.00 14

*Business Day

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RefSeq Version NM_012203.1, 6912395
Length 1235 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens glyoxylate reductase/hydroxypyruvate reductase (GRHPR), mRNA.
Product glyoxylate reductase/hydroxypyruvate reductase
Comment

Summary: 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. [provided by RefSeq, Jul 2008].

RefSeq NP_036335.1
CDS 42..1028
Misc Feature(1)60..1022
Misc Feature(2)60..1022
Misc Feature(3)288..293
Misc Feature(4)387..926
Misc Feature(5)861..863
Misc Feature(6)918..929
Exon (1)1..124
Gene:GRHPR
Gene Synonym:GLXR; GLYD; PH2
Exon (2)125..255
Gene:GRHPR
Gene Synonym:GLXR; GLYD; PH2
Exon (3)256..328
Gene:GRHPR
Gene Synonym:GLXR; GLYD; PH2
Exon (4)329..445
Gene:GRHPR
Gene Synonym:GLXR; GLYD; PH2
Exon (5)446..534
Gene:GRHPR
Gene Synonym:GLXR; GLYD; PH2
Exon (6)535..639
Gene:GRHPR
Gene Synonym:GLXR; GLYD; PH2
Exon (7)640..775
Gene:GRHPR
Gene Synonym:GLXR; GLYD; PH2
Exon (8)776..906
Gene:GRHPR
Gene Synonym:GLXR; GLYD; PH2
Exon (9)907..1235
Gene:GRHPR
Gene Synonym:GLXR; GLYD; PH2
Translation MRPVRLMKVFVTRRIPAEGRVALARAADCEVEQWDSDEPIPAKELERGVAGAHGLLCLLS DHVDKRILDAAGANLKVISTMSVGIDHLALDEIKKRGIRVGYTPDVLTDTTAELAVSLLL TTCRRLPEAIEEVKNGGWTSWKPLWLCGYGLTQSTVGIIGLGRIGQAIARRLKPFGVQRF LYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVF INISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCVILPHIGSATHR TRNTMSLLAANNLLAGLRGEPMPSELKL
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Position Chain Variation Link
38+dbSNP:
38+a, gdbSNP:201826196
39+c, tdbSNP:200847843
57+c, tdbSNP:147185003
59+c, gdbSNP:111232251
86+, adbSNP:180177311
92+c, tdbSNP:138843824
134+dbSNP:
134+a, gdbSNP:141330907
143+a, gdbSNP:180177304
144+, gdbSNP:80356708
177+c, gdbSNP:202022170
190+c, tdbSNP:150805048
221+c, tdbSNP:139689525
242+a, cdbSNP:149782105
244+c, tdbSNP:180177305
275+dbSNP:
275+c, tdbSNP:143337459
293+a, cdbSNP:139595138
327+c, tdbSNP:78920863
329+dbSNP:
329+c, tdbSNP:201553816
336+c, tdbSNP:119490108
337+a, gdbSNP:146603229
344+c, tdbSNP:11546644
346+c, tdbSNP:35975284
377+c, tdbSNP:148778319
378+a, gdbSNP:180177307
384+a, gdbSNP:113602485
386+a, tdbSNP:147053190
393+c, tdbSNP:182258378
398+a, gdbSNP:186922220
399+c, tdbSNP:11546642
406+c, tdbSNP:200249904
415+a, gdbSNP:199560759
416+, gdbSNP:180177308
422+a, gdbSNP:151336686
444..445+, aagtdbSNP:180177309
481+dbSNP:
481+a, gdbSNP:201661750
497+a, gdbSNP:140612021
509+c, tdbSNP:142509393
519+a, gdbSNP:180177312
535+dbSNP:
535+a, gdbSNP:180177314
550+a, gdbSNP:12002324
553+a, gdbSNP:200106110
581+, tdbSNP:180177315
620+a, gdbSNP:309458
649..650+dbSNP:
649..650+, ctdbSNP:180177316
678+a, gdbSNP:145899443
704+a, gdbSNP:138575944
707+c, tdbSNP:146227450
723+a, gdbSNP:74692381
727+a, tdbSNP:202212690
731+a, cdbSNP:185747820
742+c, tdbSNP:143596402
781+dbSNP:
781+a, gdbSNP:180177318
803+a, gdbSNP:201872828
818+c, tdbSNP:201303429
842+a, cdbSNP:141800325
885+c, tdbSNP:202120724
887+c, gdbSNP:146293016
892+a, cdbSNP:200326253
905..906+, tgdbSNP:180177321
912+dbSNP:
912+c, tdbSNP:1135283
921+a, gdbSNP:139554205
930+a, gdbSNP:200632069
945+c, tdbSNP:180177322
946+a, gdbSNP:180177323
975+a, gdbSNP:180177324
996+a, g, tdbSNP:142835989
1003+c, tdbSNP:142356700
1004+a, gdbSNP:76299266
1006+c, g, tdbSNP:180177325
1052+a, gdbSNP:202111075
1146+a, gdbSNP:115124458
1154+c, tdbSNP:3198078
1174+a, gdbSNP:1057507
Gene SymbolGRHPR
Gene SynonymGLXR; GLYD; PH2
Chromosome9
Locus Map9q12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_012203 Homo sapiens glyoxylate reductase/hydroxypyruvate reductase (GRHPR), mRNA. On-demand $549.00 14
Title Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling .
Author Levin-Iaina,N., Dinour,D., Romero,L., Ron,R., Brady,R.L., Cramer,S.D. and Holtzman,E.J.
Journal J. Urol. 181 (5), 2146-2151 (2009)
Title A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2 .
Author Takayama,T., Nagata,M., Ozono,S., Nonomura,K. and Cramer,S.D.
Journal Nephrol. Dial. Transplant. 22 (8), 2371-2374 (2007)
Title Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase .
Author Booth,M.P., Conners,R., Rumsby,G. and Brady,R.L.
Journal J. Mol. Biol. 360 (1), 178-189 (2006)
Title Primary hyperoxaluria: from gene defects to designer drugs? .
Author Danpure,C.J.
Journal Nephrol. Dial. Transplant. 20 (8), 1525-1529 (2005)
Title Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias .
Author Rumsby,G., Williams,E. and Coulter-Mackie,M.
Journal Kidney Int. 66 (3), 959-963 (2004)
Title Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing .
Author Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and Wiemann,S.
Journal EMBO Rep. 1 (3), 287-292 (2000)
Title Identification of missense, nonsense, and deletion mutations in the .
Author Webster,K.E., Ferree,P.M., Holmes,R.P. and Cramer,S.D.
Journal Hum. Genet. 107 (2), 176-185 (2000)
Title Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q .
Author Huang,T., Yang,W., Pereira,A.C., Craigen,W.J. and Shih,V.E.
Journal Biochem. Biophys. Res. Commun. 268 (2), 298-301 (2000)
Title The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II .
Author Cramer,S.D., Ferree,P.M., Lin,K., Milliner,D.S. and Holmes,R.P.
Journal Hum. Mol. Genet. 8 (11), 2063-2069 (1999)
Title Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase .
Author Rumsby,G. and Cregeen,D.P.
Journal Biochim. Biophys. Acta 1446 (3), 383-388 (1999)


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