GRHPR

Chr 9p13.2

glyoxylate and hydroxypyruvate reductase

Aliases:: PH2
MANE:: ENST00000318158.11

OMIM: 604296 ↗NCBI: 9380 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GRHPR · Q9UBQ7

v62025-08-01

Predicted Aligned Error matrix for GRHPR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

96.9/ 100

Very high

328 residues

Confidence breakdown

Very high(≥ 90)98%
Confident(70–90)1%
Low(50–70)1%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal
Peroxisomal disorders
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

primary hyperoxaluria type 2
0.78
primary hyperoxaluria
0.67
Hyperoxaluria
0.37
nephrocalcinosis
0.37
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
0.34
nephrolithiasis
0.33
primary hyperoxaluria type 3
0.09
familial idiopathic steroid-resistant nephrotic syndrome
0.09
phosphohydroxylysinuria
0.08
focal segmental glomerulosclerosis
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glyoxylate reductase/hydroxypyruvate reductase

Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate, oxidizes D-glycerate to hydroxypyruvate