GRHPR

Chr 9AR

glyoxylate and hydroxypyruvate reductase

Also known as: GLXR, GLYD, PH2

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. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hyperoxaluria, primary, type IIMIM #260000
AR
UniProtHyperoxaluria primary 2
0
Active trials
24
Pubs (1 yr)
P/LP submissions
P/LP missense
1.17
LOEUF
DN
Mechanism· predicted
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GeneReview available — GRHPR
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.17LOEUF
pLI 0.000
Z-score 1.06
OE 0.72 (0.461.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.74Z-score
OE missense 0.85 (0.750.97)
169 obs / 198.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.461.17)
00.351.4
Missense OE?0.85 (0.750.97)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 12 / 16.7Missense obs/exp: 169 / 198.3Syn Z: -0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GRHPR · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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