The EFEMP2 gene helps make elastic fibers, the tissue strands that give blood vessels, skin, and lungs their stretch and strength. If this gene does not work properly, these tissues can become weaker than usual. Pathogenic variants in the EFEMP2 gene are linked to an inherited connective tissue condition that may involve enlarged or twisted arteries, loose skin, hernias, and breathing problems. Effects vary, but blood vessel changes are often the main medical concern.
What is a gene?
Genes are sections of DNA that carry instructions your cells use to make molecules or to regulate activities in the body. Some genes provide the directions for producing proteins, which are the parts of cells that do much of the work. Other genes are used mainly 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. For a deeper look at this topic, you can read more in the LearnHub.
Overview
EFEMP2Gene function
What if the gene works
The EFEMP2 gene helps build and support elastic fibers, which let tissues like artery walls stretch and spring back. This supports connective tissue strength and stability.
Risk
What if the gene does not work
Pathogenic variants in the EFEMP2 gene can cause a form of cutis laxa with loose skin and weakness of the aorta and other arteries. Milder and more severe variants can affect when features begin and how extensive they are.
Treatment
What does that mean for your treatment
No EFEMP2-specific treatment or drug choice is currently established for pathogenic variants in the EFEMP2 gene. The EFEMP2 gene is being studied in aortic disease research as a marker of blood vessel wall changes, but this has not yet changed routine treatment.
Conditions associated with EFEMP2
Gene function
What if the gene works
Your body uses the EFEMP2 gene to keep supportive tissues flexible and well organized. Its protein, fibulin-4, works in the material around cells rather than inside them. This is especially important for elastic fiber formation in connective tissue, including blood vessel walls, lungs, and skin.
The EFEMP2 gene helps build elastic fibers, which let tissues stretch and spring back. This gives structures like artery walls and lungs the flexibility they need during normal movement and blood flow.
Fibulin-4 helps elastin and collagen form a stable support network outside cells. This makes connective tissue more organized and better able to handle repeated stretching.
Its protein is part of the extracellular matrix (the material around cells that supports them). This helps skin, lungs, and blood vessels keep their shape during everyday physical stress.
What is a variant?
A genetic variant is a minor difference in the DNA sequence of a gene. These changes are common and help shape normal human diversity, including differences in appearance, metabolism, and how the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. At times, though, a variant can change how a gene functions more significantly and may contribute to, or cause, a genetic condition.
Genetic variants
What if the gene does not work
Variants in the EFEMP2 gene often alter the fibulin-4 protein so it folds poorly, is less stable, or is not released from the cell normally. Some changes mainly reduce how well fibulin-4 interacts with other connective tissue proteins, while more disruptive variants can leave little or no working protein. This severity range helps explain how EFEMP2 gene variants affect fibulin-4 protein function and why some people develop earlier or more marked features of EFEMP2-related cutis laxa.
How variants are linked to conditions
Pathogenic variants in the EFEMP2 gene cause autosomal recessive cutis laxa type 1B, so EFEMP2 gene variants linked to cutis laxa are a well-established finding in medical genetics. People with this condition may have loose or wrinkled skin along with changes in the aorta and other arteries, and some also have lung, hernia, or digestive tract involvement. When disease-causing variants are found in both copies of the EFEMP2 gene, they can confirm the 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 simply reflect natural differences among people. 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 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?
For EFEMP2, risk is mainly shaped by inheritance rather than lifestyle. People are affected when they inherit changed copies of the EFEMP2 gene from both parents, so having related family members with the condition or carrier parents raises the chance. There is not enough evidence to say that diet, exercise, or other everyday habits lower this genetic risk.
Inheritance of EFEMP2 variants
For families asking how EFEMP2 gene variants are inherited, the well-established pattern is autosomal recessive. This means a child usually inherits one EFEMP2 variant from each parent, and both parents are typically healthy carriers. When both parents carry an EFEMP2 variant, 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 no inherited variant. Because the EFEMP2 gene is on an autosome, this pattern is the same for boys and girls.
What does my EFEMP2 result mean for my family?
For EFEMP2, the main well-established family pattern is recessive. This usually means parents can carry the changed gene without having symptoms, while brothers and sisters may also be affected or may be carriers. Other close relatives, such as aunts, uncles, and cousins, could also carry the same change in the family.
Genetic information
Genetic testing
How you find out about variants
To look for changes in the EFEMP2 gene, doctors use EFEMP2 genetic testing on a blood or saliva sample. The lab reads the gene's DNA sequence to check for variants, often as part of a connective tissue gene panel or exome test. Results may identify a causative variant, show no variant, or find a variant of uncertain significance.
When should I consider getting a genetic test?
Genetic testing may be worth discussing if a baby or child has very loose skin along with serious blood vessel problems, such as an enlarged aorta or unusually twisted arteries, especially if this runs in the family. Testing can also help when a relative is known to carry an EFEMP2 gene change.
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 the type of variant involved. Over time, many factors, including lifestyle, environment, age, and medical history, also shape how the body functions. For some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is best understood alongside other parts of care. In other situations, a genetic result can offer a clear answer. In areas like medication response, genetic results may 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. This helps explain why the same treatment may work well for one person, seem weaker in another, or cause more side effects in someone else. These differences are common and often relate to how the body breaks down a drug, moves it through tissues, or responds to it at its target.
What is Pharmacogenetics?
Pharmacogenetics examines how inherited genetic differences can affect a person’s response to medication. It looks at relationships between genes and drugs to help explain why the same treatment may 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 help support more informed, more individualized treatment decisions. You can read more about this topic in the LearnHub.
Drugs influenced by the EFEMP2 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how you will respond to medicines. If you have side effects, trouble after starting a new treatment, or questions about how your medicines fit your overall health, it makes sense to talk with your doctor.
History
EFEMP2 entered the genetics literature in the late 1990s, when researchers studying a family of related connective tissue proteins identified the gene now also known as fibulin-4. Initially understood only through visible tissue features, later recognized as tied to a specific gene, its importance became clearer as inherited forms of loose skin and blood vessel weakness were investigated. From these first observations, research expanded steadily. In the 2000s, pathogenic variants in the EFEMP2 gene were linked to autosomal recessive cutis laxa, helping connect long-noted clinical features with a defined genetic cause. That work also placed EFEMP2 among the key genes in the early molecular study of inherited connective tissue conditions.