GRHPR (Glyoxylate and Hydroxypyruvate Reductase)
A key enzyme in glyoxylate metabolism, associated with primary hyperoxaluria type 2
Gene Information Card
| Symbol | GRHPR |
|---|---|
| Full Name | Glyoxylate and Hydroxypyruvate Reductase |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.2 |
| NCBI Gene ID | 9380 ncbi.nlm.nih.gov/gene/9380 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q9UBQ7 |
| OMIM ID | 604296 |
| HGNC ID | 4570 |
| Aliases | GLXR, PH2, DHDPS2 |
Description
The GRHPR gene encodes glyoxylate and hydroxypyruvate reductase, an enzyme that catalyzes the reduction of glyoxylate and hydroxypyruvate to glycolate and D-glycerate, respectively, using NADPH as a cofactor. This enzyme plays a critical role in glyoxylate metabolism, preventing the accumulation of oxalate. Mutations in GRHPR cause primary hyperoxaluria type 2 (PH2), an autosomal recessive disorder characterized by excessive oxalate production leading to kidney stones and renal failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary hyperoxaluria type 2 (PH2) | Loss-of-function mutations in GRHPR reduce or eliminate enzyme activity, leading to accumulation of glyoxylate and hydroxypyruvate, which are converted to oxalate and L-glycerate, respectively. Oxalate crystallizes in the kidneys and urinary tract. | ClinVar, OMIM |
| Oxalate nephropathy | Secondary to GRHPR deficiency, oxalate deposition causes progressive kidney damage. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Pancreas | 4.7 | Medium |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.2 | Highest expression among tested lines |
| HEK 293 (embryonic kidney) | 9.8 | Moderate expression |
| A549 (lung) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103delG | Frameshift | Unknown | Loss of function; associated with PH2 |
| c.494G>A (p.Arg165Gln) | Missense | Unknown | Reduced enzyme activity |
| c.862C>T (p.Arg288Trp) | Missense | Unknown | Loss of function; pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Most GRHPR mutations are loss-of-function, leading to enzyme deficiency and primary hyperoxaluria type 2.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • glyoxylate reductase (NADP+) activity (GO:0004764) | • oxidoreductase activity (GO:0016616) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • glyoxylate metabolic process (GO:0009437) | • glyoxylate catabolic process (GO:0046487) |
Pathways
• Glyoxylate and dicarboxylate metabolism (KEGG: hsa00630)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
The GRHPR protein is a 328-amino acid enzyme that functions as a homodimer. It uses NADPH to reduce glyoxylate to glycolate and hydroxypyruvate to D-glycerate, thereby preventing the conversion of glyoxylate to oxalate. Deficiency leads to oxalate overproduction and crystallization in tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRHPR Knockout HEK293 Cell Line | EDJ-KQ6568 | Human | 9380 | Details Get a Quote |
| GRHPR Knockout A-549 Cell Line | EDJ-KQ30773 | Human | 9380 | Details Get a Quote |
| GRHPR Knockout HCT 116 Cell Line | EDJ-KQ30774 | Human | 9380 | Details Get a Quote |
| GRHPR Knockout HeLa Cell Line | EDJ-KQ30775 | Human | 9380 | Details Get a Quote |
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