GRHPR

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GRHPR
Protein GRHPR PDB 2gcg.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GRHPR, GLXR, GLYD, PH2, glyoxylate reductase/hydroxypyruvate reductase
External IDs MGI: 1923488 HomoloGene: 49088 GeneCards: GRHPR
RNA expression pattern
PBB GE GRHPR 214864 s at fs.png

PBB GE GRHPR 201347 x at fs.png

PBB GE GRHPR 216308 x at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012203

NM_080289
NM_001312880

RefSeq (protein)

NP_036335

NP_525028.1
NP_001299809
NP_525028

Location (UCSC) Chr 9: 37.42 – 37.44 Mb Chr 4: 44.98 – 44.99 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Glyoxylate reductase/hydroxypyruvate reductase is an enzyme that in humans is encoded by the GRHPR gene.[3][4][5]

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.[5] GRHPR mutation analysis needs to pay attention to primer design, because allele dropout can cause false-positive result.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: GRHPR glyoxylate reductase/hydroxypyruvate reductase". 
  6. ^ 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[edit]

Further reading[edit]