The KLHL24 gene helps skin cells manage and recycle certain structural proteins that keep the skin surface strong. This gene helps your body control how quickly these proteins are broken down. When certain variants change this balance, skin can become fragile, leading to easy blistering, wounds, nail changes, and scarring, often from birth or early infancy. Some people with KLHL24-related skin conditions also develop weakness of the heart muscle later in life.
What is a gene?
Genes are sections of DNA that provide your cells with instructions to make molecules or regulate processes in the body. Some genes hold the directions for producing proteins, which are the working parts of cells. Other genes mainly control when certain processes happen, where they take place, and how strongly they operate. Together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
KLHL24Gene function
What if the gene works
The KLHL24 gene helps cells label certain proteins for breakdown and recycling. This supports protein balance and helps maintain the structure of skin and heart muscle cells.
Risk
What if the gene does not work
Variants in the KLHL24 gene can cause fragile blistered skin from birth, often with nail changes or scarring, and some people later develop heart muscle disease. Mild and severe variants can affect when features appear and how severe they are.
Treatment
What does that mean for your treatment
No treatment or drug selection approach specific to the KLHL24 gene is currently established. Care is based on a person’s symptoms and follows standard management for related skin fragility or heart involvement, rather than a medicine chosen for the KLHL24 gene itself. The KLHL24 gene is being studied as a possible treatment target in inherited skin conditions.
Conditions associated with KLHL24
Gene function
What if the gene works
The KLHL24 gene helps your cells manage when certain proteins are cleared away. This careful protein control supports normal cell upkeep and helps maintain the cell's internal framework. KLHL24 gene function is especially relevant in tissues that rely on sturdy structural proteins, including skin.
KLHL24 helps cells identify specific proteins that should be removed at the right time. This keeps protein levels balanced as cells grow, work, and renew themselves.
Its protein works within the cell’s protein tagging system to send selected proteins for breakdown. This routine cleanup supports steady day to day cell function.
KLHL24 helps regulate structural proteins that act like internal supports inside cells. Keeping these proteins in balance helps cells stay organized and resilient.
What is a variant?
A genetic variant is a slight difference in the DNA sequence of a gene. These differences are common and are one reason people vary naturally, including in appearance, metabolism, and how the body responds to environmental influences. Many variants do not produce any noticeable effect and are simply part of normal genetic variation. At times, however, a variant can have a larger effect on how a gene functions and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Some KLHL24 gene variants, especially changes near the start of the gene, make a shorter KLHL24 protein that is not broken down on time. This overactive protein can cause too much keratin 14, a key support protein in skin cells, to be cleared away, which is a well-known mechanism in KLHL24-related epidermolysis bullosa simplex. Other variants may reduce KLHL24 activity instead, and milder or more severe changes can affect how strongly the protein is altered and, in some cases, how early skin or heart features appear.
How variants are linked to conditions
Pathogenic variants in the KLHL24 gene cause KLHL24-related epidermolysis bullosa simplex, an inherited condition marked by fragile skin, blistering, and sometimes areas of missing skin at birth. In many people, skin symptoms become milder with age, but some carry an ongoing risk of scarring, nail changes, or reduced hair growth. Certain KLHL24 gene variants are also linked to dilated cardiomyopathy, a condition that affects the heart muscle.
A variant is not necessarily a diagnosis
Genetic variants are a common and normal feature of human biology in the general population. Most do not directly affect health and instead reflect natural variation among people. For many genes, having a variant associated with a condition points to a possible link rather than a definite diagnosis, particularly when several genes and environmental influences play a role. Still, in some situations, one well-characterized variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For KLHL24, risk is mainly linked to whether you carry a disease-causing variant, and family history can help show who else may be affected. There is not enough evidence to say that lifestyle changes lower the chance of having the related skin condition. Heat, rubbing, and minor skin injury can make symptoms worse, and some adults may also develop heart problems over time.
Inheritance of KLHL24 variants
KLHL24-related conditions are most often inherited in an autosomal dominant pattern. This means a person with a disease-causing variant in the KLHL24 gene has a 50% chance of passing it to each child, regardless of sex. In families asking about the KLHL24 inheritance pattern, the variant can be passed from an affected mother or father to a son or daughter. Some people have a new (de novo) variant in the KLHL24 gene, which means it was not inherited from either parent.
What does my KLHL24 result mean for my family?
A harmful KLHL24 result linked to the best-known KLHL24-related skin condition is usually passed in a dominant pattern, so close relatives such as a parent, brother, sister, or child may also carry the same change. In many families, each child of someone with the variant has a 1 in 2 chance of inheriting it. Some cases happen for the first time in a family, so a parent does not always carry the variant.
Genetic information
Genetic testing
How you find out about variants
KLHL24 genetic testing looks for changes in the KLHL24 gene using a blood, saliva, or cheek swab sample. To find KLHL24 variants, a lab reads the gene’s DNA sequence and compares it with the usual pattern. Results may show a variant was found, not found, or needs further interpretation.
When should I consider getting a genetic test?
Consider KLHL24 genetic testing if there is unexplained fragile skin or blistering from birth or early infancy, especially when it runs in the family. It can also be useful when a relative has a known KLHL24 variant or this condition has been linked with later heart muscle weakness.
A genetic result is only one part of your health story
A genetic result can be informative, but how much it reveals depends on the condition and on the kind of variant present. Many factors, including lifestyle, environment, age, and medical history, influence how the body functions over time. In some conditions, especially those shaped by many genes, genetic information offers context rather than certainty and is best considered with other parts of care. In other situations, a genetic result may give a clear answer. In areas such as medication response, genetic results can also help put individual experiences in perspective.
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 the target tissue. This helps explain why the same medication may work well for one person, work less well for another, or cause more side effects in someone else. These differences are common and are one part of why treatment response can vary from person to person.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in a person’s genes can affect the way they respond to medications. It studies gene drug relationships to better understand why the same treatment may work differently from one person to another. For many drugs, genes influence how the body handles a medicine or how strong its effects are. This information can help support treatment choices that are more informed and more individualized. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the KLHL24 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for changes in this gene in guiding medication choice or dose, so questions about symptoms, treatment, or side effects are best discussed with your doctor.