The DCLRE1A gene helps cells repair certain types of DNA damage, especially damage that links the two DNA strands together. This gene plays an important role in keeping DNA stable as cells grow and divide. If it does not work properly, DNA damage can build up, which may disrupt normal cell function and cell survival. Unlike BRCA1, the DCLRE1A gene is mainly discussed in research settings rather than in popular culture.
What is a gene?
Genes are sections of DNA that hold instructions your cells use to make molecules or regulate processes in the body. Some genes carry the information needed to produce proteins, the parts of cells that do the work. Others are mainly involved in controlling when certain processes happen, where they take place, and how strongly they occur. As a whole, genes affect how the body develops and functions, and they may also influence how you respond to food, stress, or medications. For a closer look at this topic, you can read more in the LearnHub.
Overview
DCLRE1AGene function
What if the gene works
Your cells use the DCLRE1A gene to help repair broken DNA. It is also important when the body makes T cells and B cells, key parts of the immune system.
Risk
What if the gene does not work
Pathogenic variants in the DCLRE1A gene can cause radiosensitive severe combined immunodeficiency, leading to early, repeated infections and poor growth. Milder or less disruptive variants may cause later-onset combined immune problems with variable severity.
Treatment
What does that mean for your treatment
A pathogenic variant in the DCLRE1A gene can change treatment planning because people with this DNA repair condition are often more sensitive to radiation and some chemotherapy drugs, especially alkylating agents. Stem cell transplant is a standard treatment, and teams often use milder pre transplant chemotherapy or adjusted drug plans to lower treatment related harm. Care teams also try to limit unnecessary medical radiation.
Gene function
What if the gene works
Your cells constantly copy DNA and fix everyday wear. In simple terms, the DCLRE1A gene function is to help clear certain DNA blockages so repair and copying can keep going. Its protein carefully trims damaged DNA, which supports stable cell activity over time.
The DCLRE1A gene helps fix interstrand crosslinks, which are spots where the two DNA strands become stuck together. Its protein cuts and trims around the blockage so other repair steps can move forward.
Inside your cells, DCLRE1A makes a protein that removes short stretches of damaged DNA from one end. This careful cleanup creates a better starting point for accurate repair.
When cells divide, DCLRE1A helps clear damaged spots that can stall DNA copying. By opening a path past the blockage, it supports steady copying of your DNA instructions.
What is a variant?
A genetic variant is a minor difference in the DNA sequence of a gene. These changes are common and help shape normal human diversity, including differences in appearance, metabolism, and how the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the DCLRE1A gene can make the Artemis protein unstable, shorten it, or reduce how well it handles broken DNA. Milder and more severe DCLRE1A gene variants can leave different amounts of activity, so some people keep partial function while others have little to none. That difference often shapes whether immune problems appear later and stay milder, or begin earlier with more severe features.
How variants are linked to conditions
Pathogenic variants in the DCLRE1A gene cause rare inherited immune conditions, most notably a form of severe combined immunodeficiency (SCID) with marked sensitivity to radiation. Some people instead develop Omenn syndrome or a later onset combined immunodeficiency with repeated infections, inflammation, and autoimmunity. The main conditions linked to variants in the DCLRE1A gene are inherited immune deficiencies, and some affected people also have a higher chance of lymphoma.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are common across the general population. Most do not directly affect health and simply contribute to natural human variation. 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 play a role. 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?
There is not yet broadly confirmed evidence on specific day-to-day factors that increase or reduce health risk related to the DCLRE1A gene. For this gene, risk is mainly shaped by whether someone was born with harmful changes in both copies of DCLRE1A, and family history can matter when both parents carry a change.
Inheritance of DCLRE1A variants
DCLRE1A-related conditions are inherited in an autosomal recessive pattern. For families asking about inheritance of DCLRE1A gene variants, this usually means a child inherits one changed copy of the DCLRE1A gene from each parent. When both parents carry one 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 who inherits neither variant. Boys and girls are affected equally, and carrier parents are usually healthy.
What does my DCLRE1A result mean for my family?
Changes in the DCLRE1A gene are usually linked to conditions that run in families in a recessive way, so close relatives may also carry the same gene change even if they are healthy. Brothers and sisters of an affected child can sometimes also be affected or be carriers. For family members, this often means the result may be relevant for siblings and for parents thinking about future pregnancies.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the DCLRE1A gene, doctors use genetic testing on a blood sample or saliva. This is how DCLRE1A genetic testing works: a lab reads the gene's DNA code, checks for changes, and reports whether a relevant variant was found.
When should I consider getting a genetic test?
Consider DCLRE1A testing if a baby or child has repeated severe infections, very low immune function, or a newborn screening result that points to a very serious immune condition called severe combined immune deficiency. It can also help when this kind of inherited immune condition runs in the family.
A genetic result is only one part of your health story
Genetic results can provide valuable insight, but what they reveal depends on the condition and the kind of variant involved. How your body functions over time is also shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, particularly those affected by many genes, genetic information offers context rather than certainty and is most useful when considered alongside other parts of care. In other situations, a genetic result can give a clear answer. In areas like medication response, these results can also help put personal 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. This is common and can help explain why the same treatment works well for one person, works less well for another, or causes more side effects in some people.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can shape the way a person responds to medicines. By studying the relationship between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medications, genes can affect both how strongly a drug works and how the body processes it. This information can support treatment decisions that are more informed and more individualized. More on this topic is available in the LearnHub.
Drugs influenced by the DCLRE1A gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding everyday medication choices, so questions about medicines or new symptoms are best discussed with your doctor. Research on DCLRE1A does show that people with DCLRE1A-related conditions can be unusually sensitive to radiation and some cancer treatments, so this should be reviewed with the care team before treatment starts.
History
The DCLRE1A gene entered medical genetics through studies of children with a rare form of severe combined immunodeficiency marked by unusual sensitivity to radiation. In the late 1990s and early 2000s, researchers linked this condition to variants in a gene first called ARTEMIS, which is now known as the DCLRE1A gene. Initially understood only through visible traits, later recognized as tied to a specific gene, this finding helped connect immune problems with defects in DNA repair. Building on this early work, scientists uncovered more about the gene and clarified why some affected families had both repeated infections and marked reactions to radiation during testing. These discoveries made the DCLRE1A gene an important part of the history of rare immune conditions and DNA repair research.