AGXT Gene

Name	alanine-glyoxylate aminotransferase
Description	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Alanine:glyoxylate aminotransferase (AGT), the enzyme encoded by the AGXT gene, is a liver‐specific, peroxisomal enzyme that plays an essential role in glyoxylate detoxification by catalyzing the transamination of glyoxylate and L‐alanine to form glycine and pyruvate. Proper folding, dimerization, coenzyme (pyridoxal 5′‐phosphate) binding, and accurate peroxisomal targeting are critical for AGT’s function. Structural studies have demonstrated that many missense mutations found in primary hyperoxaluria type 1 (PH1) perturb AGT’s three‐dimensional conformation and stability, thereby reducing its catalytic efficacy or causing it to misfold and mislocalize (for example, to mitochondria rather than peroxisomes) even when catalytic function is partially retained (1,2,3,4). As a consequence, inefficient glyoxylate detoxification leads to its conversion into oxalate, resulting in calcium oxalate crystal deposition, kidney stone formation, and renal failure. Recent investigations have also shown that the pathogenic effects of these mutations can arise from enhanced protein aggregation and aberrant chaperone interactions, which interfere with normal trafficking of AGT (1,3,4). Moreover, emerging pharmacological approaches, including the use of small‐molecule agents that inhibit mitochondrial protein import or act as chemical chaperones, have shown promise in restoring correct peroxisomal localization of mutant AGT and thereby ameliorating the metabolic derangements underlying PH1 (5,6,7). Overall, the function of AGXT is central to hepatic glyoxylate metabolism, and a detailed understanding of its structure–function relationships is fundamental for devising targeted therapies in PH1.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n (1)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ", (2)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", (3)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", (4)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", (5)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", (6)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", (7)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xiaoxuan Zhang, S Mark Roe, Yanwen Hou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0022-2836(03)00791-5"}], "href": "https://doi.org/10.1016/s0022-2836(03"}, {"type": "t", "text": "00791-5) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12899834"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12899834"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Christiaan S van Woerden, Jaap W Groothoff, Frits A Wijburg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical implications of mutation analysis in primary hyperoxaluria type 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Kidney Int (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1523-1755.2004.00796.x"}], "href": "https://doi.org/10.1111/j.1523-1755.2004.00796.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15253729"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15253729"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Noel Mesa-Torres, Israel Fabelo-Rosa, Debora Riverol, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0071963"}], "href": "https://doi.org/10.1371/journal.pone.0071963"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24205397"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24205397"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Barbara Cellini, Riccardo Montioli, Alessandro Paiardini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M808965200"}], "href": "https://doi.org/10.1074/jbc.M808965200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19155213"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19155213"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Non Miyata, Janos Steffen, Meghan E Johnson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1408401111"}], "href": "https://doi.org/10.1073/pnas.1408401111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25237136"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25237136"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Barbara Cellini, Antonio Lorenzetto, Riccardo Montioli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochimie (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biochi.2010.08.005"}], "href": "https://doi.org/10.1016/j.biochi.2010.08.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20713123"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20713123"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Carla G Monico, Sandro Rossetti, Heidi A Schwanz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Soc Nephrol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1681/ASN.2006111230"}], "href": "https://doi.org/10.1681/ASN.2006111230"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17460142"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17460142"}]}]}]}
Synonyms	SPT, TLH6, AGXT1, SPAT, PH1, AGT1, AGT
Proteins	SPYA_HUMAN
NCBI Gene ID	189
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

AGXT has 6,559 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 117 datasets.

Click the + buttons to view associations for AGXT from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

AGXT Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of AGXT gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of AGXT gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of AGXT gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of AGXT gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of AGXT gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of AGXT gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of AGXT gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of AGXT gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of AGXT gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of AGXT gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of AGXT gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with AGXT gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of AGXT gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of AGXT gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of AGXT gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with AGXT gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with AGXT gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of AGXT gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing AGXT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing AGXT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with AGXT protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with AGXT protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with AGXT gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with AGXT gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with AGXT gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by AGXT gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving AGXT gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving AGXT gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with AGXT gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with AGXT gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with AGXT gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with AGXT gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with AGXT gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for AGXT protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at AGXT gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of AGXT gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of AGXT gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing AGXT from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with AGXT gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with AGXT gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.