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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AGXT2
alanine--glyoxylate aminotransferase 2
Chromosome 5 · 5p13.2
NCBI Gene: 64902Ensembl: ENSG00000113492.15HGNC: HGNC:14412UniProt: Q9BYV1
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
L-alanine:glyoxylate transaminase activityglyoxylate catabolic processL-alanine catabolic processpositive regulation of nitric oxide biosynthetic processneurodegenerative diseaseCognitive impairmentAlzheimer diseasemultiple sclerosis
✦AI Summary

AGXT2 (alanine-glyoxylate aminotransferase 2) is a mitochondrial multifunctional aminotransferase with broad substrate specificity that plays crucial roles in cardiovascular and metabolic regulation 1. The enzyme catalyzes multiple reactions including the conversion of glyoxylate to glycine using alanine as amino donor, metabolism of D-beta-aminoisobutyric acid, and transfer of amino groups from beta-alanine to pyruvate 1. Importantly, AGXT2 metabolizes asymmetric (ADMA) and symmetric (SDMA) dimethylarginines, potent inhibitors of nitric oxide synthase, providing a mechanism through which the kidney regulates blood pressure 1. Genetic variants in AGXT2, particularly rs37369 and rs16899974, significantly affect circulating SDMA levels and are associated with cardiovascular disease risk 23. These variants also influence heart rate variability, suggesting AGXT2's role in autonomic nervous system regulation 2. AGXT2 variants have been linked to mild cognitive impairment, with effects mediated through beta-aminoisobutyric acid levels 4. While AGXT2 serves as an alternative pathway for dimethylarginine clearance, evidence suggests it may function primarily as a backup enzyme under pathophysiological conditions rather than being the primary regulator of ADMA/SDMA metabolism 5.

Sources cited
1
AGXT2 is a multifunctional mitochondrial aminotransferase with multiple substrates and broad specificity
PMID: 25294000
2
AGXT2 metabolizes ADMA and SDMA, providing mechanism for blood pressure regulation
PMID: 25294000
3
AGXT2 variants rs37369 and rs16899974 affect SDMA levels and heart rate variability
PMID: 24159190
4
AGXT2 variants are associated with increased cardiovascular disease risk
PMID: 30284143
5
AGXT2 variants are linked to mild cognitive impairment through beta-aminoisobutyric acid
PMID: 37120436
6
AGXT2 may act as backup enzyme in ADMA metabolism under pathophysiological conditions
PMID: 35207213
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
Cognitive impairmentOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.24Weak
lysosomal storage diseaseOpen Targets
0.24Weak
multiple sclerosisOpen Targets
0.24Weak
Parkinson diseaseOpen Targets
0.24Weak
beta-aminoisobutyric acid, urinary excretion ofOpen Targets
0.21Weak
preeclampsiaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
hypertensionOpen Targets
0.06Suggestive
essential hypertensionOpen Targets
0.06Suggestive
essential hypertension, geneticOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
Crohn's diseaseOpen Targets
0.05Suggestive
neuroinflammatory disorderOpen Targets
0.05Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.05Suggestive
pseudotumor cerebriOpen Targets
0.04Suggestive
supravalvular aortic stenosisOpen Targets
0.04Suggestive
metabolic syndromeOpen Targets
0.04Suggestive
metabolic syndrome XOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AGXTProtein interaction95%ALAS1Protein interaction95%ALAS2Protein interaction95%CTHProtein interaction95%DAOProtein interaction95%SARDHProtein interaction95%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Ovary
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AGXT2AGXTALAS1ALAS2CTHDAOSARDH
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BYV1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.76–1.19]
RankingsWhere AGXT2 stands among ~20K protein-coding genes
  • #9,297of 20,598
    Most Researched46
  • #12,437of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedAGXT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
AGXT2: a promiscuous aminotransferase.
PMID: 25294000
Trends Pharmacol Sci · 2014
1.00
2
AGXT2: An unnegligible aminotransferase in cardiovascular and urinary systems.
PMID: 28970090
J Mol Cell Cardiol · 2017
0.90
3
Association of Variability in the DDAH1, DDAH2, AGXT2 and PRMT1 Genes with Circulating ADMA Concentration in Human Whole Blood.
PMID: 35207213
J Clin Med · 2022
0.80
4
Genetic variations in the alanine-glyoxylate aminotransferase 2 (AGXT2) gene and dimethylarginines levels in rheumatoid arthritis.
PMID: 28357606
Amino Acids · 2017
0.70
5
Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.
PMID: 37120436
Transl Psychiatry · 2023
0.60