The PEX14 gene helps build and run peroxisomes, small parts of cells that break down certain fats and help protect tissues from harmful byproducts. If the gene does not work properly, these cell structures cannot import the proteins they need, which can lead to a peroxisomal condition such as Zellweger spectrum disorder, with effects on the brain, liver, hearing, vision, and development. This gene plays an important role in keeping many organs working together from early life.
What is a gene?
Genes are stretches of DNA that carry instructions your cells can use to make molecules or direct processes in the body. Some genes hold the code for producing proteins, the parts of cells that do the work. Other genes mainly regulate when certain processes happen, where they happen, and how strongly they take place. Taken together, genes affect how the body grows and works, and they can influence how you respond to food, stress, or medications. To go into this topic in more detail, you can find more in the LearnHub.
Overview
PEX14Gene function
What if the gene works
The PEX14 gene helps build and run peroxisomes, small parts of cells that break down certain fats and help manage harmful byproducts. This supports healthy brain, liver, and eye development and everyday cell function.
Risk
What if the gene does not work
Variants in the PEX14 gene can cause a Zellweger spectrum condition, ranging from severe infant illness to milder childhood forms. People may have low muscle tone, hearing or vision loss, liver problems, and delayed development.
Treatment
What does that mean for your treatment
At present, no PEX14-specific treatment or drug selection approach is established in clinical guidelines for people with pathogenic variants in the PEX14 gene. Care is guided by symptoms and overall organ involvement rather than by the PEX14 gene itself.
Conditions associated with PEX14
Gene function
What if the gene works
Inside your cells are tiny compartments called peroxisomes that help handle certain fats and chemical byproducts. The PEX14 gene gives instructions for a key doorway protein on the peroxisome surface. Understanding how the PEX14 gene helps peroxisomes work makes it easier to see how cells manage everyday cleanup and fat processing.
The PEX14 gene helps form the docking site where carrier proteins deliver enzymes into the peroxisome. This allows the compartment to receive the tools it needs for normal daily work.
By stocking peroxisomes with the right enzymes, the PEX14 gene supports normal peroxisome formation and routine activity. Cells can then keep these compartments ready for ongoing jobs.
Working peroxisomes use imported enzymes to shorten very long fatty acids before other cell systems process them further. This helps your body manage certain fats across many tissues.
Peroxisomes also contain enzymes that break down hydrogen peroxide (a reactive chemical made during normal cell activity). By helping those enzymes reach the right place, the PEX14 gene supports controlled chemical cleanup inside cells.
What is a variant?
Within a gene, a genetic variant is a small change in the DNA sequence. These changes are common and are part of 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 simply represent natural genetic variation. In some cases, 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 PEX14 gene can change the shape or amount of the PEX14 protein, making it harder for cell proteins to enter peroxisomes, the small compartments that process certain fats and chemicals. This is how PEX14 gene variants affect protein function at the cellular level. Milder variants may leave some transport working, while more severe variants can block it almost completely. In PEX14-related Zellweger spectrum condition, this can influence how early features appear and how marked they are.
How variants are linked to conditions
Pathogenic variants in the PEX14 gene are linked to Zellweger spectrum disorder, a genetic condition that can affect development, hearing, vision, the liver, and the nervous system. In medical genetics, this is also called peroxisome biogenesis disorder type 13A. When a person inherits disease-causing PEX14 variants from both parents, the result can confirm a PEX14 gene Zellweger spectrum disorder diagnosis.
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 instead reflect natural differences among people. For many genes, having a variant associated with a condition points to a possible link, not a certain diagnosis, particularly when more than one gene and environmental influences play a role. Still, in some situations, one well-characterized variant in a particular gene is enough to establish a diagnosis.
Are there things that can increase or change my risk?
For PEX14, risk is mainly shaped by inheritance rather than lifestyle. A child’s chance of having a PEX14-related condition is higher when both parents carry a harmful change in this gene, and this can be more likely in families with relatives who have the same condition or where parents are blood relatives. There is not enough evidence to say that diet, exercise, or other everyday habits lower this genetic risk.
Inheritance of PEX14 variants
PEX14-related conditions are inherited in an autosomal recessive pattern. This means a child usually inherits one nonworking copy of the PEX14 gene from each parent. Parents who each carry one PEX14 variant are typically unaffected, but 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 who inherits neither variant. In practical terms, how variants of the PEX14 gene are inherited usually comes down to both parents passing on the same gene change.
What does my PEX14 result mean for my family?
For families with a disease-causing PEX14 result linked to a peroxisome condition, the pattern is usually recessive, which means close relatives may also be carriers even if they are healthy. Brothers and sisters could also be affected or carry the same change. Family members may want to learn whether the same result is present in them, especially when planning children.
Genetic information
Genetic testing
How you find out about variants
PEX14 genetic testing looks for variants in the PEX14 gene using a blood or saliva sample. A lab reads the gene's DNA, often as part of a multi gene panel or exome test, and may confirm important findings with a second method. Results can show whether a person carries two disease causing variants, one variant, or no reportable variant.
When should I consider getting a genetic test?
Consider PEX14 testing if a baby or child has signs of a rare condition that affects how cells handle certain fats, with problems such as very low muscle tone, seizures, hearing or vision loss, or liver disease. It may also help when there is a family history or a known PEX14 variant in the family.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but how much it reveals depends on the condition and the kind of variant involved. How the body functions over time is also shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is most helpful when considered alongside other parts of care. In other situations, a genetic result can offer a clear answer. In areas such as medication response, genetic results may help place a person’s individual experiences in context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body breaks down a drug, moves it through the body, or responds to it, so the same treatment may work differently from one person to another. These differences are common and can influence how much benefit someone gets from a medicine or how sensitive they are to side effects.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic variation affects a person’s response to medications. It focuses on gene drug relationships to improve understanding of why the same treatment can work differently from one person to another. For many medicines, genes influence how strongly a drug works or how the body processes it. This information can support treatment decisions that are better informed and more individualized. More detail on this topic is available in the LearnHub.
Drugs influenced by the PEX14 gene
When should I seek medical advice?
There isn’t yet a broadly confirmed role for this gene in guiding medicine choices, so any concerns about side effects, new symptoms, or how treatments may affect you are best discussed with your doctor.
History
In the 1990s, researchers studying rare inherited conditions that affect peroxisomes began identifying a growing group of PEX genes. The PEX14 gene was described in 1997 during this period, as scientists worked to map the proteins involved in peroxisome formation and maintenance. Building on this early work, research groups showed how PEX14 fit into the larger network of peroxisome biogenesis factors, often called peroxins. These findings helped bring more order to the naming and classification of PEX genes across human and laboratory studies. Over time, variants in the PEX14 gene were linked to a rare condition within the Zellweger spectrum, connecting earlier lab discoveries with genetic diagnosis in clinical care.