AGXT
Chr 2ARalanine--glyoxylate aminotransferase
The protein is a peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine, contributing to glyoxylate detoxification in the liver. Mutations cause primary hyperoxaluria type 1, an autosomal recessive disorder that leads to excessive oxalate production and can result in kidney stones, nephrocalcinosis, and progressive kidney disease. This gene is not constrained against loss-of-function variants, and some disease-causing mutations are known to alter the protein's subcellular targeting.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AGXT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Retrospective and Prospective Follow-up of Patients With Primary Hyperoxaluria Type 1 Treated With Lumasiran in France.
RECRUITINGPhase 1/2 Study of ABO-101 in Primary Hyperoxaluria Type 1 (redePHine)
RECRUITINGHeterozygous Individuals for AGXT and Kidney Stones
NOT YET RECRUITINGClinical Exploration Study of YOLT-203 in the Treatment of Type 1 Primary Hyperoxaluria (PH1)
ACTIVE NOT RECRUITINGClinical Exploration Study of YOLT-203 in the Treatment of Type 1 Primary Hyperoxaluria (PH1)
RECRUITINGStudy of YOLT-203 in Children and Adults With Primary Hyperoxaluria Type 1 (PH1)
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools