The ATIC gene helps cells make purines, the small building blocks needed for DNA, RNA, and the cell’s energy system. If the ATIC gene does not work properly, the body may have trouble with normal growth and brain development, and a very rare inherited condition linked to this gene can include developmental delay, seizures, and low muscle tone. This gene plays an important role in tissues that need a steady supply of new cells and energy.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or regulate processes in the body. Some genes hold the directions for producing proteins, the parts of cells that do the work. Others mainly help control when, where, and how strongly certain processes take place. As a group, genes influence how the body develops and functions, and they can shape how you respond to food, stress, or medications. For a more detailed look at this topic, you can learn more in the LearnHub.
Overview
ATICGene function
What if the gene works
The ATIC gene helps cells make purines, the building blocks of DNA, RNA, and energy molecules. Its protein carries out the final steps in this process, supporting normal growth and everyday cell function.
Risk
What if the gene does not work
When the ATIC gene does not work properly, people can develop a condition affecting brain development, growth, and movement, often with developmental delay and seizures. Milder to more severe variants can influence when symptoms appear and how pronounced they are.
Treatment
What does that mean for your treatment
No ATIC-specific treatment or management approach is currently established for people with a pathogenic or loss-of-function variant in the ATIC gene. In research, ATIC is being studied as a possible drug target in cancer and inflammatory pathways, but this has not led to gene-directed treatment in routine care.
Conditions associated with ATIC
Gene function
What if the gene works
Your cells need purines to make DNA, RNA, and many energy-carrying molecules. The ATIC gene helps with the last part of this process, including how cells make purines from scratch. When it works properly, cells can keep a steady supply of these basic building blocks for everyday growth and repair.
ATIC uses a folate-based helper, a form of vitamin B9, to add a small carbon piece to a nearly finished purine molecule. This prepares the molecule for the final step of purine production.
ATIC then converts that intermediate into inosine monophosphate, often called IMP. IMP is the first complete purine in the pathway and serves as the shared starting point for adenine and guanine.
By helping make IMP, the ATIC gene supports the raw materials cells use for DNA, RNA, and energy-related molecules such as ATP. This keeps routine cell activities supplied with key chemical parts.
What is a variant?
A genetic variant is a minor change in a gene’s DNA sequence. These changes are common and help explain normal differences between people, such as appearance, metabolism, or the way the body responds to environmental factors. Many variants do not have any noticeable effect and are simply part of natural genetic variation. Sometimes, though, a variant changes how a gene works more substantially and can contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the ATIC gene can alter the enzyme’s shape or stability, so cells make less of it or a version that works poorly in the last steps of purine production. Some ATIC gene variants that affect enzyme activity are milder and leave partial function, while more severe variants can greatly reduce or stop activity and cause the intermediate AICAR to build up inside cells. In ATIC deficiency, less remaining activity often goes along with earlier and more wide ranging symptoms.
How variants are linked to conditions
Pathogenic variants in the ATIC gene cause AICA-ribosiduria, also called ATIC deficiency, which is a very rare inherited condition. People with ATIC gene related conditions often have developmental delay, seizures, low muscle tone, growth problems, and eye or vision changes, although features can vary. This is a monogenic diagnosis, so finding disease-causing variants in both copies of the ATIC gene can confirm the condition.
A variant is not necessarily a diagnosis
Gene variants are a normal feature of human biology, and they are common across the general population. Most have no direct effect on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition points to a possible link rather than a definite diagnosis, especially when several genes and environmental factors are involved. In some situations, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For ATIC, risk is mainly shaped by family history and whether both parents carry a harmful change in the ATIC gene. In families with a known ATIC-related condition, having a previous affected child or parents who are blood relatives can raise the chance for future children.
Inheritance of ATIC variants
Variants in the ATIC gene linked to disease are inherited in an autosomal recessive pattern. This means a child usually inherits one altered copy from each parent, and the parents are often healthy carriers. When both parents carry an ATIC gene variant, 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 two typical copies. In families looking into the ATIC gene inheritance pattern, this also means the variant can be passed to sons and daughters equally.
What does my ATIC result mean for my family?
ATIC-related conditions are usually passed down in a recessive pattern, so close relatives may also be carriers even if they feel well. Brothers and sisters could also be affected or be carriers, depending on which gene changes they inherited. For family members planning children, this result can matter because a partner who is also a carrier could have a child with the condition.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for the ATIC gene works by reading the DNA in a blood, saliva, or cheek swab sample to look for variants. Results may show no important variant, a variant known to cause a genetic condition, or a variant of uncertain significance, meaning the change is not yet fully understood.
When should I consider getting a genetic test?
Consider ATIC genetic testing when a baby or child has signs of this very rare inherited condition, such as major developmental delay, low muscle tone, seizures, or growth problems, especially if another family member is affected. Testing can help confirm whether a change in the ATIC gene is the cause.
A genetic result is only one part of your health story
Genetic findings can provide useful insight, but how much they reveal depends on the condition and the specific type of variant involved. Many other factors, including lifestyle, environment, age, and medical history, also shape how the body works over time. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best understood together with 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 people respond to medicines. Small differences in genes can change how the body breaks down a drug, moves it through the body, or responds to it at its target. Because of this, the same medicine may work better for one person, work less well for another, or cause more side effects in someone who is more sensitive to it. These differences are common and help explain why medication response can vary from person to person.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences affect the way people respond to medications. It studies links between genes and drugs to understand why the same treatment may work differently from one person to another. For many medicines, genes help influence both how the body handles a drug and how strong its effects are. This information can support more informed, individualized treatment decisions. More detail on this topic is available in the LearnHub.
Drugs influenced by the ATIC gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choices, so questions about side effects, benefits, or medication changes are best discussed with your doctor. ATIC has been studied in research on methotrexate response and side effects, but these findings are not used routinely to make treatment decisions.