The AGXT gene helps the liver break down glyoxylate so it does not turn into too much oxalate, a substance that can form crystals. If this gene does not work well, oxalate can build up and cause repeated kidney stones, calcium deposits in the kidneys, and over time kidney damage. In medicine, this gene is important because pathogenic variants can cause primary hyperoxaluria type 1. Some people also develop oxalate buildup in other parts of the body when kidney function falls.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or directing activities in the body. Some genes carry the code for proteins, which do much of the cell’s work. Others mainly regulate when certain processes happen, where they take place, and how active they are. Together, genes affect how the body develops and functions, and they can also influence how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
AGXTGene function
What if the gene works
The AGXT gene helps your liver process glyoxylate, a natural chemical made during normal metabolism. This limits oxalate buildup and supports the kidneys by lowering the chance of crystals forming.
Risk
What if the gene does not work
Variants in the AGXT gene can cause primary hyperoxaluria type 1, with too much oxalate production. This often causes recurrent kidney stones and can range from milder kidney disease to early kidney failure, sometimes with oxalate buildup in other organs.
Treatment
What does that mean for your treatment
Pathogenic variants in the AGXT gene can affect treatment choice because some respond to pyridoxine (vitamin B6), which may lower oxalate levels; response is especially seen with certain AGXT variants. Lumasiran is an established treatment for primary hyperoxaluria type 1 regardless of the specific AGXT variant, and it helps reduce oxalate production.
Conditions associated with AGXT
Gene function
What if the gene works
Your liver uses the AGXT gene to process glyoxylate, a small chemical made during everyday body chemistry. Its protein helps turn glyoxylate into glycine, an amino acid, and supports balanced oxalate production. This is a key part of how the liver handles glyoxylate in routine cell activity.
The AGXT gene helps liver cells convert glyoxylate into glycine, an amino acid your body uses every day. This guides glyoxylate into a routine, well-controlled pathway.
Its protein transfers a small chemical group from alanine, an amino acid, to glyoxylate. That step forms pyruvate, which cells can use for energy, and glycine.
The AGXT gene supports normal oxalate balance by channeling glyoxylate through this liver pathway. This helps keep everyday body chemistry more controlled.
The AGXT protein works mainly in peroxisomes, small compartments inside liver cells. This placement helps the cell process glyoxylate in the right location.
What is a variant?
A genetic variant is a minor difference in the DNA sequence within a gene. Variants are common and help shape normal human diversity, including differences in appearance, metabolism, and the way the body responds to environmental influences. Many do not have any noticeable effect and are simply part of natural genetic variation. Sometimes, though, a variant can change how a gene works more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the AGXT gene can reduce the amount of working enzyme, make it unstable, or send it to the wrong part of the cell, which is how AGXT gene variants affect enzyme activity. Some changes leave partial activity, while more disruptive variants can nearly abolish it. This range from milder to more severe variants helps explain why primary hyperoxaluria type 1 may appear later and stay milder in some people, but begin earlier or cause more pronounced features in others.
How variants are linked to conditions
Pathogenic variants in the AGXT gene cause primary hyperoxaluria type 1, a rare inherited condition linked to repeated kidney stones, calcium oxalate buildup, and kidney damage. In some people, AGXT gene variants linked to primary hyperoxaluria type 1 also lead to oxalate collecting in bones, eyes, skin, blood vessels, or the heart, especially after kidney function declines. A confirmed disease causing variant in the AGXT gene can establish the diagnosis in the right clinical setting.
A variant is not necessarily a diagnosis
Variants in genes are a routine feature of human biology and are found throughout the general population. Most do not directly affect health and simply contribute to normal human variation. For many genes, a variant connected with a condition points to a possible link rather than a certain diagnosis, particularly when several genes and environmental influences play a part. In some situations, though, one well understood variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For AGXT, risk is mainly set by inheritance: it is highest when both parents carry a changed copy and a child inherits both changed copies. In people already living with an AGXT-related condition, dehydration can raise the chance of kidney stones and kidney damage.
Inheritance of AGXT variants
AGXT gene inheritance for primary hyperoxaluria type 1 follows an autosomal recessive pattern. This means a child usually inherits one AGXT gene variant from each parent, and parents who carry one variant typically do not have the condition themselves. When both parents are carriers, each pregnancy has a 25% chance of an affected child, a 50% chance of a child who is a carrier, and a 25% chance of a child with neither familial variant. Because the AGXT gene is on chromosome 2, it is inherited equally through either side of the family.
What does my AGXT result mean for my family?
For families, an AGXT result usually matters most for siblings and for relatives planning children. Parents of someone with primary hyperoxaluria type 1 are usually healthy carriers, and brothers or sisters may also be affected or be carriers. Other close relatives may also carry the changed gene, so the finding can be relevant across the family.
Genetic information
Genetic testing
How you find out about variants
Doctors often use AGXT genetic testing for primary hyperoxaluria type 1 on a blood or saliva sample. The lab reads the AGXT gene to look for variants and may also check for missing or extra pieces of DNA. Results can show whether a person has no relevant variant, carries one variant, or has two variants that support the diagnosis.
When should I consider getting a genetic test?
Consider AGXT genetic testing if you or your child has repeated kidney stones, calcium buildup in the kidneys, or unexplained kidney failure, especially at a young age. It can also help when primary hyperoxaluria, a rare condition that causes too much oxalate, runs in the family.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but how much it reveals depends on the condition and the kind of variant involved. How the body works over time is shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, especially those affected by many genes, genetic information offers context rather than certainty and is best considered alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas like medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body responds to medicines. Small differences in genes can change how quickly a drug is broken down, how much of it reaches its target, or how sensitive your body is to its effects. This helps explain why the same medication may work well for one person, work less well for another, or cause more side effects in someone else. These differences are common and are one reason treatment response can vary from person to person.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genes can shape the way a person responds to medications. By looking at links between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medicines, genes can influence how strongly a drug works or how the body handles it. This information can support more personalized, well informed treatment decisions. More on this topic is available in the LearnHub.
Drugs influenced by the AGXT gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in routine medication decisions, so general questions about medicines, side effects, or supplements are best discussed with your doctor. In people living with primary hyperoxaluria type 1, AGXT changes can affect how well vitamin B6 treatment works, so it is worth discussing before starting or reviewing that treatment.
History
Primary hyperoxaluria was recognized clinically long before the AGXT gene was identified, as doctors described people who developed repeated kidney stones and kidney damage from excess oxalate. In the 1980s and early 1990s, researchers linked the condition more clearly to a missing or altered liver enzyme and then mapped the cause to the AGXT gene on chromosome 2. From these first observations, research expanded steadily. Scientists then showed that different AGXT variants could explain why some families had more severe disease while others had a later or milder course. This work helped establish primary hyperoxaluria type 1 as a distinct inherited condition. It also laid the groundwork for modern genetic diagnosis and family testing.