GRHPR
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGRHPR, GLXR, GLYD, PH2, glyoxylate reductase/hydroxypyruvate reductase, glyoxylate and hydroxypyruvate reductase
External IDsOMIM: 604296 MGI: 1923488 HomoloGene: 49088 GeneCards: GRHPR
Orthologs
SpeciesHumanMouse
Entrez

9380

76238

Ensembl

ENSG00000137106

ENSMUSG00000035637

UniProt

Q9UBQ7

Q91Z53

RefSeq (mRNA)

NM_012203

NM_080289
NM_001312880

RefSeq (protein)

NP_036335

NP_001299809
NP_525028

Location (UCSC)Chr 9: 37.42 – 37.44 MbChr 4: 44.98 – 44.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Glyoxylate reductase/hydroxypyruvate reductase is an enzyme that in humans is encoded by the GRHPR gene.[5][6][7]

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.[7] GRHPR mutation analysis needs to pay attention to primer design, because allele dropout can cause false-positive result.[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000137106 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035637 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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.
  7. 1 2 "Entrez Gene: GRHPR glyoxylate reductase/hydroxypyruvate reductase".
  8. 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. S2CID 12234158.

Further reading



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