GRHPR (glyoxylate and hydroxypyruvate reductase)

2007-06-01  

Identity

HGNC
LOCATION
9p13.2
LOCUSID
ALIAS
GLXR,GLYD,PH2
FUSION GENES

Other Information

Locus ID:

NCBI: 9380
MIM: 604296
HGNC: 4570
Ensembl: ENSG00000137106

Variants:

dbSNP: 9380
ClinVar: 9380
TCGA: ENSG00000137106
COSMIC: GRHPR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137106ENST00000318158Q9UBQ7
ENSG00000137106ENST00000318158A0A384N605
ENSG00000137106ENST00000494290Q9UBQ7
ENSG00000137106ENST00000607784U3KQ56

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Pyruvate metabolismKEGGko00620
Glyoxylate and dicarboxylate metabolismKEGGko00630
Glycine, serine and threonine metabolismKEGGhsa00260
Pyruvate metabolismKEGGhsa00620
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
153273872004Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.21
167569932006Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase.14
235990412013Glyoxalate reductase/hydroxypyruvate reductase interacts with the sodium-dependent vitamin C transporter-1 to regulate cellular vitamin C homeostasis.3
175100932007A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.1
192969822009Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.1
234861612013Glyoxylate reductase/hydroxypyruvate reductase: a novel prognostic marker for hepatocellular carcinoma patients after curative resection.0
241169212014Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.0

Citation

Dessen P

GRHPR (glyoxylate and hydroxypyruvate reductase)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/44026/grhpr