What you carry at this position in your DNA and what research says about it.
Heart and Metabolic Health: 6/10 evidence, 20 publications.
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Sample genotype (not yours): C/C
Typical Heart and Metabolic Health
Inheriting two copies of the common C allele ensures fully functional AGXT2 enzyme activity, helping maintain normal breakdown of metabolic byproducts.
What this genotype means: Normal AGXT2 enzyme activity; Typical levels of ADMA and BAIB; Baseline cardiovascular risk.
Sample genotype (not yours): C/T
Slightly Reduced AGXT2 Enzyme Activity
A single copy of the T variant slightly reduces AGXT2 enzyme activity, leading to mild elevations in metabolic byproducts.
What this genotype means: Mildly reduced AGXT2 activity; Slightly elevated ADMA and BAIB levels; Slightly increased cardiovascular risk.
Sample genotype (not yours): T/T
Reduced AGXT2 Activity and Higher Metabolic Risk
Two copies of the T variant significantly lower AGXT2 enzyme activity, causing an accumulation of BAIB and methylarginines.
What this genotype means: Significantly reduced AGXT2 activity; Hyper-beta-aminoisobutyric aciduria; Increased risk of coronary artery disease and diabetes.
Gene function and biological role
Gene Function: Encoding alanine-glyoxylate aminotransferase 2, the AGXT2 gene produces a mitochondrial enzyme primarily expressed in the kidneys [1]. This enzyme plays a crucial role in metabolizing several biologically active amino acids and methylarginines, including asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA) [1]. By degrading these compounds, AGXT2 helps regulate nitric oxide production and maintain vascular homeostasis [1]. It is also the primary enzyme responsible for breaking down beta-aminoisobutyric acid (BAIB), a byproduct of pyrimidine metabolism [2].
Variant Impact: A missense mutation in the AGXT2 gene, rs37369 causes a valine-to-isoleucine substitution at position 140 of the protein. This amino acid change alters the structure of the AGXT2 enzyme, significantly reducing its catalytic activity [1]. As a result, individuals carrying the variant allele experience impaired breakdown of its substrates, leading to an accumulation of BAIB, ADMA, and SDMA in the body [1]. This reduction in enzyme function is the primary genetic cause of hyper-beta-aminoisobutyric aciduria, a common metabolic variation characterized by high urinary excretion of BAIB [2].
Key Insight: The T allele of this variant reduces the activity of the AGXT2 enzyme, leading to a harmless but highly noticeable accumulation of the metabolite BAIB in urine.
Location: AGXT2. Chromosome 5 · 5p13.2 · 35.0 Mb
Estimated prevalence by population
Global 60.0%; European 83.8%; African 20.5%; East Asian 17.6%; South Asian 57.3%; Americas 55.2%; Ashkenazi 79.4%; Finnish 80.2%; Middle Eastern 80.6%; Amish 85.4%.
Estimated CC genotype frequency.
Global 29.3%; European 15.5%; African 49.6%; East Asian 48.7%; South Asian 36.8%; Americas 38.2%; Ashkenazi 19.4%; Finnish 18.7%; Middle Eastern 18.3%; Amish 14.0%.
Estimated CT genotype frequency.
Global 10.7%; European 0.7%; African 29.9%; East Asian 33.7%; South Asian 5.9%; Americas 6.6%; Ashkenazi 1.2%; Finnish 1.1%; Middle Eastern 1.0%; Amish 0.6%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Nutrition & Metabolism
Blood Chemistry & Metabolites
Urinary BAIB Levels. Evidence: 8/10. Source: PMID 21572414. Typical Levels.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
ADMA Levels. Evidence: 8/10. Source: PMID 24159190. Typical Levels.
Cardiovascular & Metabolic
Heart Disease
Heart Disease. Evidence: 6/10. Source: PMID 24159190. Typical Risk.
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 6/10. Source: PMID 35995766. Typical Risk.
Showing effects for C/T genotype
Urinary BAIB Levels. Evidence: 8/10. Source: PMID 21572414. Slightly Elevated.
ADMA Levels. Evidence: 8/10. Source: PMID 24159190. Slightly Elevated.
Heart Disease. Evidence: 6/10. Source: PMID 24159190. ~2.4x Higher Risk.
Showing effects for T/T genotype
Urinary BAIB Levels. Evidence: 8/10. Source: PMID 21572414. Highly Elevated.
ADMA Levels. Evidence: 8/10. Source: PMID 24159190. Elevated Levels.
Type 2 Diabetes. Evidence: 6/10. Source: PMID 35995766. ~1.8x Higher Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Production of the fully active form of the AGXT2 enzyme occurs with this genetic profile [1]. This enzyme efficiently breaks down methylarginines like ADMA and SDMA, which are natural inhibitors of nitric oxide production [1]. Keeping these compounds low supports healthy blood vessel function and blood pressure regulation [1]. Additionally, the enzyme efficiently processes beta-aminoisobutyric acid (BAIB), preventing its accumulation in the urine [2]. Consequently, this genotype is associated with a typical risk profile for coronary artery disease and type 2 diabetes compared to carriers of the variant allele [3].
Normal AGXT2 enzyme activity; Typical levels of ADMA and BAIB; Baseline cardiovascular risk.
Sample genotype: CT (Heterozygous)
Possession of one functional C allele and one variant T allele results in intermediate AGXT2 enzyme activity [1]. This partial reduction in enzyme function leads to slightly higher levels of circulating methylarginines such as ADMA and SDMA [1]. Elevated ADMA can mildly restrict nitric oxide synthesis, which is vital for blood vessel relaxation [2]. Mildly elevated levels of BAIB may also be present in the urine, though typically below the threshold for clinical hyper-beta-aminoisobutyric aciduria [3]. Research suggests that carriers of at least one T allele have an increased risk of developing coronary artery disease compared to those with the CC genotype [4].
Mildly reduced AGXT2 activity; Slightly elevated ADMA and BAIB levels; Slightly increased cardiovascular risk.
Sample genotype: TT (Homozygous)
Inheriting the TT genotype means the body produces a less active version of the AGXT2 enzyme [1]. This significantly impairs the body's ability to break down beta-aminoisobutyric acid (BAIB), leading to a benign metabolic condition known as hyper-beta-aminoisobutyric aciduria [2]. It also results in elevated levels of asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA) [1]. High levels of ADMA inhibit nitric oxide production, which can impair endothelial function and elevate cardiovascular risk [3]. Clinical studies have associated this genotype with a significantly higher risk of coronary artery disease and type 2 diabetes [4].
Significantly reduced AGXT2 activity; Hyper-beta-aminoisobutyric aciduria; Increased risk of coronary artery disease and diabetes.
Variants with shared genetic architecture
rs10184004 · COBLL1 Gene · Chr 2 · Type 2 Diabetes Risk
rs11257655 · CDC123 Gene · Chr 10 · Type 2 Diabetes Risk
rs1128249 · COBLL1 Gene · Chr 2 · Metabolic Health Risk
A genome-wide association study of metabolic traits in human urine.
Content updated August 2026.
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