The RNASEH2C gene helps build a cell repair system that removes stray RNA from DNA and supports accurate copying of genetic material. The protein made by this gene helps your cells keep DNA stable; if it does not work properly, abnormal material can build up and trigger inflammation. Pathogenic variants in the RNASEH2C gene can cause Aicardi-Goutières syndrome, a rare inherited condition that often affects brain development and may also affect the skin and immune system.
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 instructions for producing proteins, the cell components that carry out work. Others mainly direct when certain processes occur, where they occur, and how strongly they operate. As a group, genes affect how the body develops and works, and they can influence your response to food, stress, or medications. To explore this topic further, see the LearnHub.
Overview
RNASEH2CGene function
What if the gene works
The RNASEH2C gene helps cells remove RNA that ends up in DNA during normal copying and repair. This supports stable genetic material and helps the immune system avoid reacting to leftover bits of genetic material.
Risk
What if the gene does not work
More disruptive variants in the RNASEH2C gene can cause Aicardi-Goutières syndrome, often beginning in infancy with brain inflammation, developmental delay, and movement problems. Milder variants may lead to later onset or less severe features, and some people develop chilblains.
Treatment
What does that mean for your treatment
No RNASEH2C-specific treatment or management approach is currently established; care is guided by symptoms and overall clinical findings. Because RNASEH2C-related conditions can involve overactive type I interferon signaling, medicines that calm this pathway, such as JAK inhibitors, are under study.
Conditions associated with RNASEH2C
Gene function
What if the gene works
Your cells constantly copy and tidy their DNA. Understanding what the RNASEH2C gene does in your cells starts with a small cleanup job that matters every day. It provides one part of a three part enzyme team that clears away leftover RNA pieces from DNA. This helps cells keep their genetic material ready for normal growth and division.
RNASEH2C forms part of a three part cell tool that removes RNA pieces attached to DNA. This cleanup helps keep DNA in a form your cells can copy and use smoothly.
When cells make new DNA, they first use short RNA starter pieces. RNASEH2C supports the team that removes these starters so the finished DNA strand can be completed cleanly.
By helping clear RNA from DNA, RNASEH2C supports the day to day care of your genetic material. This steady work is central to normal RNASEH2C gene function in many tissues.
What is a variant?
A genetic variant is a slight alteration in the DNA sequence within a gene. Variants are common and help shape normal human diversity, such as differences in appearance, metabolism, and the body’s response to environmental influences. Many have no noticeable effect at all and are simply part of natural genetic variation. At times, though, a variant can more strongly affect how a gene functions and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
To understand how variants influence the RNASEH2C gene's function, it helps to know that many changes make the protein less stable or weaken its place in the RNase H2 complex. Some variants leave partial activity, while more disruptive variants can greatly reduce complex function or block normal assembly. This can leave extra RNA-DNA material inside cells and trigger an interferon response (an overactive immune alarm signal). In Aicardi-Goutières syndrome, lower remaining function often links to earlier onset and broader features.
How variants are linked to conditions
Pathogenic variants in the RNASEH2C gene cause Aicardi-Goutières syndrome, a rare inherited condition that usually starts in infancy and can affect brain development, movement, and the skin. In practice, the main RNASEH2C gene variants linked to disease are the ones found in people with this condition. This diagnosis is typically confirmed when a person has disease-causing variants in both copies of the gene.
A variant is not necessarily a diagnosis
Genetic variants are common in the general population and are a normal feature of human biology. Most have no direct impact on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible connection rather than a definite diagnosis, especially when more than one gene and environmental factors contribute. In some cases, though, one well-characterized variant in a particular gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For conditions linked to the RNASEH2C gene, risk is mainly shaped by inheritance rather than lifestyle. A child’s chance is higher when both parents carry a harmful RNASEH2C change, and this can be more likely in families with a known history of the condition or when parents are blood relatives.
Inheritance of RNASEH2C variants
RNASEH2C-related conditions are inherited in an autosomal recessive pattern. In practical terms, how RNASEH2C gene variants are inherited usually means a child receives one nonworking copy of the RNASEH2C gene from each parent. Parents who carry one variant are typically healthy carriers, and with each pregnancy they have a 25% chance of having an affected child, a 50% chance of having a child who is a carrier, and a 25% chance of having a child with two working copies. This pattern affects females and males equally, and either parent can pass the variant on.
What does my RNASEH2C result mean for my family?
For families, an RNASEH2C result most often matters in a recessive pattern, which means parents, brothers, sisters, and future children may want to understand whether they also carry the same gene change. Brothers and sisters can sometimes have the same condition or be healthy carriers, and other relatives may also be carriers without knowing it. The exact meaning for family members depends on whether the result confirms a disease-causing change or shows carrier status.
Genetic information
Genetic testing
How you find out about variants
Testing for RNASEH2C variants usually uses a blood or saliva sample. In RNASEH2C genetic testing, a laboratory reads the DNA code of the RNASEH2C gene and may also check for missing or extra pieces. Results can show whether a variant is present, absent, or needs further interpretation.
When should I consider getting a genetic test?
Testing for the RNASEH2C gene may be considered when a baby or child has signs that fit a rare inherited brain and immune condition called Aicardi-Goutières syndrome, such as early developmental problems, poor head growth, seizures, or unexplained inflammation. It can also help when this condition runs in the family or when both parents are known carriers.
A genetic result is only one part of your health story
Genetic results can be informative, but what they tell you varies based on the condition and the specific variant involved. Over time, many factors also shape how your body works, including lifestyle, environment, age, and medical history. In some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is best considered alongside other parts of care. In other situations, a genetic result can 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 handles certain medicines, so the same treatment may work differently from one person to another. These inherited differences can change how quickly a drug is broken down, how much of it reaches its target, or how sensitive the body is to it. As a result, some people get the expected benefit, while others may notice less effect or more side effects. This is a common part of normal human variation and one reason medication response is not the same for everyone.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genes can affect the way people respond to medicines. It studies links between genes and medications to help explain why the same treatment may work differently in different people. With many drugs, genes influence how powerfully a medicine works or how the body handles it. This information can support treatment choices that are more informed and more tailored to the individual. To learn more about this topic, visit the LearnHub.
Drugs influenced by the RNASEH2C gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choice or dose, so general questions about medicines, side effects, or your health are best discussed with your doctor.