The ABCC6 gene helps the liver release substances that keep calcium from building up in soft tissues. When this gene does not work, minerals can collect in the skin, eyes, and blood vessels. Pathogenic variants in the ABCC6 gene are a main cause of pseudoxanthoma elasticum, which may lead to small yellow skin changes, reduced skin stretch, and vision or circulation problems over time. In babies, some ABCC6 variants can also cause a rarer condition with early artery calcification.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or managing processes in the body. Some genes provide the directions for producing proteins, which are the parts of cells that carry out the work. Other genes mainly regulate when a process happens, where it happens, and how active it is. Together, genes affect how the body develops and functions, and they can also shape how you respond to food, stress, or medications. For a more detailed look at this topic, you can find additional information in the LearnHub.
Overview
ABCC6Gene function
What if the gene works
The ABCC6 gene helps liver cells release ATP into the bloodstream. This supports production of pyrophosphate, a natural substance that reduces calcium buildup in soft tissues like skin, eyes, and blood vessels.
Risk
What if the gene does not work
When the ABCC6 gene does not work properly, it can cause pseudoxanthoma elasticum, affecting skin, eyes, and blood vessels, or arterial calcification. Milder and more severe variants can influence when signs appear and how strongly tissues are affected.
Treatment
What does that mean for your treatment
No ABCC6-specific treatment or drug selection approach is currently established for a pathogenic variant in the ABCC6 gene. The ABCC6 gene is being studied as part of anti calcification treatment research, including ways to raise pyrophosphate, a natural blocker of unwanted mineral buildup in the body.
Conditions associated with ABCC6
Gene function
What if the gene works
Many of the ABCC6 gene’s effects are felt far from the cells where it is most active. It mainly helps liver cells release ATP, a small molecule that carries energy, into the bloodstream. Outside the cell, that ATP is turned into substances that help soft tissues stay flexible and resist unwanted mineral buildup. Understanding how the ABCC6 gene works helps explain how your body manages this everyday protective process.
The ABCC6 gene helps certain cells move ATP from inside the cell to the outside. This happens mainly in the liver and supplies ATP to the bloodstream for later protective steps.
Outside cells, released ATP is broken down into pyrophosphate (a natural blocker of mineral buildup). This helps keep calcium and phosphate from collecting in blood vessel walls and other soft tissues.
Although its protein works mostly in the liver, its effects reach many tissues through the bloodstream. This allows one organ to support normal mineral balance in more distant parts of the body.
What is a variant?
A genetic variant is a small alteration in the DNA sequence of a gene. These changes are common and are part of normal human diversity, including 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, however, 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 ABCC6 gene affect protein function by changing the transporter’s shape, stability, or delivery to the cell surface, which can leave too little working protein or weaken its transport activity. Some ABCC6 gene variants leave partial function, while more disruptive changes can stop the protein from being made correctly, trap it inside the cell, or nearly abolish activity. Lower remaining function is often linked to earlier or more pronounced features of pseudoxanthoma elasticum.
How variants are linked to conditions
Pathogenic variants in the ABCC6 gene cause pseudoxanthoma elasticum (PXE), so ABCC6 gene and pseudoxanthoma elasticum are closely linked in medical genetics. Biallelic variants in the ABCC6 gene can also cause generalized arterial calcification of infancy type 2 in some people. These diagnoses are tied to specific disease-causing variants, not to every change found in the gene.
A variant is not necessarily a diagnosis
Variants in genes are a usual feature of human biology and are widely found across the population. Most do not directly affect health and instead reflect normal human variation. For many genes, having a variant associated with a condition points to a possible link rather than a certain diagnosis, particularly when several genes and environmental influences play a role. In other situations, one well understood variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For ABCC6, risk is mostly shaped by the variants you inherit, especially when changes are present in both copies of the gene. Smoking and poorly controlled blood pressure can worsen blood vessel and eye complications in people living with an ABCC6-related condition, but there is not enough evidence to say lifestyle changes prevent the condition itself.
Inheritance of ABCC6 variants
ABCC6-related conditions are usually inherited in an autosomal recessive pattern. In practical terms, how ABCC6 variants are inherited means a child usually needs to receive one altered copy of the ABCC6 gene from each parent to have the condition. Parents who each carry one variant often do not have the condition themselves. When both parents are carriers, each pregnancy has a 25% chance of an affected child, a 50% chance of a carrier child, and a 25% chance of a child with two typical copies of the gene.
What does my ABCC6 result mean for my family?
For ABCC6, family implications are usually discussed in a recessive pattern. Brothers and sisters may also have the condition or may carry the same gene change, and parents are often healthy carriers. Children of someone with an ABCC6-related condition will usually be carriers, but they are more likely to be affected only if the other parent also carries an ABCC6 change.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for variants in the ABCC6 gene uses a blood or saliva sample to read the gene’s DNA, usually with sequencing and sometimes extra checks for missing or extra pieces. This can confirm whether a disease causing ABCC6 variant is present and may show whether family members carry the same change.
When should I consider getting a genetic test?
Consider ABCC6 testing if you or a close relative has a condition that affects the skin, eyes, and blood vessels, called pseudoxanthoma elasticum, or unexplained calcium buildup in the arteries at a young age. Testing can help confirm whether ABCC6 is the cause and clarify family risk.
A genetic result is only one part of your health story
Genetic results can provide useful insight, but how much they explain varies by the condition and the type 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 offers context rather than certainty and is most helpful when considered alongside other parts of care. In other situations, a genetic result may 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 people respond to medicines. Two people can take the same treatment, yet one may get a stronger benefit while another may notice less effect or be more sensitive to side effects. This happens in part because inherited differences can change how the body absorbs, breaks down, moves, or responds to a drug. These differences are common and are one reason medication response can vary from person to person.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can shape a person’s response to medications. It looks for links between genes and drugs to help explain why the same treatment may affect people differently. For many medicines, genes influence how strongly a drug works or how the body processes it. This information can support more informed and individualized treatment choices. If you want to learn more about this topic, more information is available in the LearnHub.
Drugs influenced by the ABCC6 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medicine choices or doses, so questions about side effects, new symptoms, or how any treatment fits your health are best discussed with your doctor.
History
Throughout history, people described yellowish skin changes and eye findings that were later recognized as part of pseudoxanthoma elasticum. In the late 1800s and early 1900s, doctors began defining this condition more clearly, though its inherited cause remained unknown. From these first observations, research expanded steadily, and family studies gradually showed that the condition could run in families. A major step came in 2000, when researchers identified the ABCC6 gene as the main gene linked to pseudoxanthoma elasticum. That finding helped connect older clinical descriptions with modern genetic testing. Over time, scientists’ understanding of the ABCC6 gene’s role in this condition has changed as more variants and related patterns were reported.