The JUP gene helps make a protein that keeps neighboring cells attached, especially in the heart muscle and skin. If this gene does not work properly, cells can separate more easily, which may lead to heart rhythm problems, weakness of the heart muscle, and sometimes thick skin on the palms and soles or woolly hair. Pathogenic variants in the JUP gene are linked to inherited arrhythmogenic cardiomyopathy and related skin findings.
What is a gene?
Genes are stretches of DNA that hold instructions your cells use to make molecules or regulate processes in the body. Some genes provide the directions for producing proteins, which are the parts of cells that do the work. Others are used mostly to control when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body grows and works, and they can influence how you respond to food, stress, or medications. To explore this topic further, you can read more in the LearnHub.
Overview
JUPGene function
What if the gene works
The JUP gene helps cells stick firmly to each other, especially in the skin and heart. Its protein supports structures that give tissues strength and help them handle stretching.
Risk
What if the gene does not work
Variants in the JUP gene can disrupt cell connections in the heart and skin. More severe changes may cause arrhythmogenic cardiomyopathy, sometimes with woolly hair and palm or sole skin thickening, while milder variants may lead to fewer features.
Treatment
What does that mean for your treatment
No JUP-specific treatment or drug choice is currently established for pathogenic variants in the JUP gene. JUP is being studied as a disease marker and possible treatment target in some cancers, and in research on arrhythmogenic cardiomyopathy.
Conditions associated with JUP
Gene function
What if the gene works
Your cells need secure connections to stay organized, especially in tissues that are stretched or squeezed. The JUP gene helps build and support those connections between neighboring cells. Its protein is part of the anchoring system that keeps cell layers working as a team. This helps explain the JUP gene function in the skin and heart, where cells face repeated physical stress.
The JUP gene helps neighboring cells attach to each other at contact points called junctions. These junctions keep cells lined up and connected, so tissues can stay organized.
Its protein links cell surface attachment proteins to the cell’s inner support fibers. That link gives tissues extra strength when they are pulled, stretched, or compressed.
Many tissues rely on junctions supported by the JUP gene to spread force across a whole sheet of cells. This is especially important in skin and heart muscle during everyday movement.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. Changes like this are common and help account for normal human diversity, such as differences in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not have any noticeable effect and are simply part of 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 JUP gene can make plakoglobin too short, unstable, or less able to join the structures that fasten neighboring cells together. This explains how JUP gene variants affect protein function, weakening attachment between cells. Milder variants may leave some activity, while more disruptive variants often sharply reduce or remove the protein, which can relate to earlier or more marked heart, skin, or hair features.
How variants are linked to conditions
Pathogenic variants in the JUP gene can cause Naxos disease, an inherited condition with arrhythmogenic cardiomyopathy (a heart muscle condition that can cause abnormal rhythms), woolly hair, and thickened skin on the palms and soles. Some variants in the JUP gene are also linked to arrhythmogenic right ventricular cardiomyopathy without skin findings. This is how variants in the JUP gene are linked to conditions affecting both heart rhythm and the skin, although severity can vary from person to person.
A variant is not necessarily a diagnosis
Genetic variants are a usual feature of human biology and are widely found across the general population. Most do not directly affect health and simply contribute to natural differences among people. For many genes, having a variant associated with a condition points to a possible link rather than a confirmed diagnosis, particularly when several genes and environmental influences play a role. In certain situations, though, one well-studied variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For JUP-related heart conditions, risk is driven mainly by the inherited gene change itself. In people living with a harmful JUP variant, long-term intense endurance exercise can raise the chance of earlier or worse heart rhythm problems, so regular heart follow-up and avoiding extreme training can be important.
Inheritance of JUP variants
How JUP gene variants are inherited depends on the specific JUP-related condition. Some follow an autosomal recessive pattern, meaning a child inherits one altered copy from each parent, while carrier parents usually do not have the condition; with each pregnancy, there is a 25% chance the child will inherit both altered copies. Other JUP-related heart conditions have been reported with autosomal dominant inheritance, where one altered copy can be enough and each child of an affected parent has a 50% chance of inheriting it.
What does my JUP result mean for my family?
For JUP, what this means for relatives depends on the specific condition linked to the result. Some JUP changes are tied to a dominant heart condition, so close family members may also carry the same change and may want to discuss testing. Other JUP changes cause a recessive condition, which means relatives may be healthy carriers without knowing it. In some families, a dominant JUP change can be new in one person rather than inherited from a parent.
Genetic information
Genetic testing
How you find out about variants
To look for changes in the JUP gene, doctors use JUP genetic testing on a blood sample, saliva, or a cheek swab. A lab reads the DNA code and checks for variants that may help explain a person’s condition or confirm a suspected inherited condition. Results are interpreted alongside symptoms and family history.
When should I consider getting a genetic test?
Consider JUP genetic testing if you or a close relative has a heart muscle condition that can cause dangerous abnormal heart rhythms, unexplained fainting, or sudden cardiac death at a young age. It may also help when these heart problems occur along with very curly or woolly hair and thick skin on the palms or soles.
A genetic result is only one part of your health story
Genetic findings can be informative, but how much they reveal depends on the condition and on the kind of variant present. Over time, many factors, including lifestyle, environment, age, and medical history, affect how the body functions. In some conditions, especially those shaped by many genes, genetic information provides context rather than certainty and is most useful when considered with other parts of care. In other situations, a genetic result can offer a clear answer. In areas like medication response, genetic results can also help put personal 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 that help absorb, break down, move, or respond to a drug can change how much of that medicine reaches its target and how strongly it works. This is a common reason why the same treatment helps one person more than another, or causes side effects in someone else. Genetics is one part of the picture, along with age, overall health, and other medicines you take.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in a person’s genes affect the way medications work. It studies links between genes and drugs to understand why the same treatment can have different effects from one person to another. For many medicines, genes influence how strongly a drug works or how the body handles it. This information can support more informed and more individualized treatment decisions. More detail on this topic is available in the LearnHub.
Drugs influenced by the JUP 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.
History
JUP entered medical genetics through research on how cells stay attached to one another in tissues such as skin and heart. In recent decades, awareness of this gene’s role has grown as researchers connected inherited changes in JUP with Naxos disease, a condition involving woolly hair, skin changes, and heart rhythm problems. That discovery helped explain why some families had this distinctive combination of features. Building on this early work, scientists uncovered more about the gene through studies of arrhythmogenic cardiomyopathy, a heart condition linked to scarring and rhythm changes. These findings helped shift attention toward the importance of cell junction genes in inherited heart disease. Today, JUP is recognized as part of the genetic history of cardiology and skin related conditions.