The RNF113A gene helps cells process RNA, the working copy made from DNA, and supports repair of everyday DNA damage. If this gene does not work properly, cells may struggle to make some proteins correctly, which can affect growth, brain development, hair, skin, and the immune system. Pathogenic variants in the RNF113A gene are linked to a rare X linked condition that can include developmental delay, short stature, and brittle hair. Most people hear about this gene only if it appears on genetic testing.
What is a gene?
Genes are stretches of DNA that give your cells instructions they can use to make molecules or manage activities in the body. Some genes hold the directions for producing proteins, the parts of cells that carry out much of the work. Other genes mainly regulate when certain processes happen, where they take place, and how strongly they run. Taken together, genes affect how the body develops and works, and they can also shape how you respond to food, stress, or medications. For a closer look at this topic, you can find more in the LearnHub.
Overview
RNF113AGene function
What if the gene works
The RNF113A gene helps cells prepare genetic messages so proteins are made correctly. It also supports repair of damaged DNA.
Risk
What if the gene does not work
Variants in the RNF113A gene can cause an X linked condition with brittle hair, skin changes, growth delay, and developmental or learning difficulties; milder and more severe variants can affect when features appear and how pronounced they are.
Treatment
What does that mean for your treatment
No RNF113A-specific treatment or management approach is currently established. At present, treatment is guided by a person's symptoms and usual clinical care, not by a drug choice linked specifically to the RNF113A gene.
Conditions associated with RNF113A
Gene function
What if the gene works
Your cells need the RNF113A gene to prepare RNA messages before they are used to make proteins. Much of the RNF113A gene function centers on careful message editing inside the nucleus, the cell's control center. This helps routine cell work stay organized and on schedule.
Cells use the RNF113A gene to trim and join fresh RNA messages before proteins are made. This turns an early draft into a clear set of instructions for the cell.
Its protein helps the cell recognize the right places to cut and reconnect RNA messages. That keeps the final message organized so protein making can follow the intended plan.
What is a variant?
A genetic variant is a minor difference in the DNA sequence within a gene. These differences are common and are part of normal human diversity, including variation in appearance, metabolism, and the way the body responds to environmental influences. Many do not have any noticeable effect and simply represent 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 RNF113A gene can alter the protein's shape, stability, or key contact sites, which can weaken RNA splicing (the cell's editing step for genetic messages) and related protein interactions. This is how variants in the RNF113A gene affect cell function: milder variants may leave some activity, while more disruptive variants can greatly reduce working protein or stop it from acting normally. In RNF113A-related conditions, larger functional loss can be linked to earlier or broader features.
How variants are linked to conditions
Pathogenic variants in the RNF113A gene cause a rare X-linked condition called trichothiodystrophy. In people with RNF113A gene variants linked to trichothiodystrophy, doctors may see brittle hair, developmental delay or intellectual disability, and short stature. Some people also have skin changes, eye findings, or recurrent infections.
A variant is not necessarily a diagnosis
Genetic variants are common across the general population and are a normal feature of human biology. Most do not directly affect health and simply reflect natural variation among people. For many genes, having a variant associated with a condition suggests a possible link rather than a certain diagnosis, particularly when several genes and environmental influences also play a role. In some situations, though, one well-characterized variant in a particular 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 factors that increase or reduce health risk related to the RNF113A gene. In families with a disease-causing change in RNF113A, the main factor is whether that change is present, while symptoms can still vary from one person to another.
Inheritance of RNF113A variants
Variants in the RNF113A gene are inherited in an X linked recessive pattern. This means the RNF113A inheritance pattern differs for sons and daughters because the gene sits on the X chromosome. A mother carrying an RNF113A variant has a 50% chance of passing it on with each pregnancy, while a father with the variant passes his X chromosome to all daughters and none of his sons. In families, boys who inherit the altered copy are more likely to be affected, while girls who inherit it often carry the variant.
What does my RNF113A result mean for my family?
A disease-causing change in the RNF113A gene can run in families in an X-linked pattern. This means relatives on the mother’s side may carry the same change, and boys in the family are more likely to have clear symptoms. Mothers, sisters, and daughters may be carriers and can sometimes have milder features. A man with an RNF113A change would pass it to all of his daughters and none of his sons.
Genetic information
Genetic testing
How you find out about variants
To find out about variants, genetic testing for RNF113A variants reads the DNA in the RNF113A gene from a blood sample or cheek swab. A lab may analyze this gene on its own or as part of a larger gene panel or exome test, then reports whether a variant was found.
When should I consider getting a genetic test?
Consider RNF113A testing if there is a personal or family history of a rare inherited condition with delayed development, poor growth, brittle hair, repeated infections, or low blood counts, especially in boys or men. It can also help clarify risk when similar problems appear in several male relatives on the mother’s side.
A genetic result is only one part of your health story
A genetic result can provide valuable insight, but how much it explains varies based on the condition and the type of variant. Many factors, including lifestyle, environment, age, and medical history, also influence how the body works over time. For some conditions, especially those shaped by many genes, genetic information provides context rather than certainty and is most useful when viewed alongside other parts of care. In other situations, a genetic result can offer a clear answer. In areas like medication response, it 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. Some people break down a drug more slowly or more quickly, while others may be more or less sensitive to its effects. This helps explain why the same treatment can work well for one person, cause side effects in another, or seem to have less benefit in someone else.
What is Pharmacogenetics?
Pharmacogenetics looks at how genetic differences can shape a person’s response to medication. It examines links between genes and drugs to help explain why the same treatment can work differently from one person to another. With many medicines, genes can affect both how strongly a drug works and how the body handles it. This information can support more informed, individualized treatment decisions. You can read more about this topic in the LearnHub.
Drugs influenced by the RNF113A gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication response, so questions about medicines, side effects, or new symptoms are best discussed with your doctor. That also applies if a treatment is not working as expected or before major medication changes.
History
RNF113A entered the medical literature through studies of rare inherited conditions affecting development, growth, and hair. Initially understood only through visible traits, later recognized as tied to a specific gene, it became clearer after families with similar features were carefully compared. In the mid 2010s, researchers linked harmful variants in the RNF113A gene to an X linked form of trichothiodystrophy, helping explain cases that had previously lacked a genetic answer. From these first observations, research expanded steadily. Later reports broadened the range of features seen in affected people and helped confirm RNF113A as part of this rare condition’s genetic cause.