The ADAM17 gene gives cells instructions for a protein that trims certain proteins from the cell surface so they can send signals for inflammation, tissue repair, and normal growth. If this gene does not work well, those signals can become unbalanced. People with severe ADAM17 variants may have problems affecting the skin, gut, immune system, and growth, and can develop repeated infections or inflammatory bowel disease. ADAM17 is mainly known in medicine and research rather than in popular culture.
What is a gene?
A gene is a stretch of DNA that carries instructions your cells use to make molecules or regulate activities in the body. Some genes provide the instructions for making proteins, the parts of cells that do much of the work. Other genes mainly direct when certain processes happen, where they happen, and how strongly they occur. Together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medications. For a more detailed look at this topic, you can learn more in the LearnHub.
Overview
ADAM17Gene function
What if the gene works
The ADAM17 gene helps cells cut and release certain surface proteins. This supports cell signaling, inflammation control, tissue repair, and normal growth.
Risk
What if the gene does not work
Variants in the ADAM17 gene can impair surface shedding, disrupting signals that help maintain skin, gut, and immune balance. More severe variants often cause early skin and bowel inflammation, sometimes with recurrent infections, while milder variants may have less effects.
Treatment
What does that mean for your treatment
For a pathogenic or loss-of-function variant in the ADAM17 gene, no ADAM17-specific treatment or management approach is currently established. The ADAM17 gene is being studied as a drug target in inflammatory conditions and some cancers, but this has not yet led to routine gene-guided treatment.
Conditions associated with ADAM17
Gene function
What if the gene works
Cells constantly pass messages to one another, and the ADAM17 gene helps keep that traffic moving. It gives instructions for a protein at the cell surface that clips selected proteins in a controlled way. Understanding what the ADAM17 gene does helps explain how cells release signals, adjust their receptors, and support routine tissue renewal.
The ADAM17 gene helps cells release certain messenger proteins from their surface. This trimming step lets those signals travel and act on nearby cells. It is a key part of normal cell to cell communication.
Its protein can also trim the outer parts of some cell surface receptors. This helps adjust how strongly a cell responds to incoming messages and keeps signaling more balanced.
By releasing growth factor signals, the ADAM17 gene supports normal tissue renewal and repair. These messages help cells coordinate everyday tasks such as replacing worn cells and renewing tissues after normal wear.
What is a variant?
A genetic variant is a minor change in the DNA sequence of a gene. These changes are common and are part of 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. In some situations, however, a variant changes 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 ADAM17 gene can change the protein’s shape, stability, or ability to reach the cell surface, which helps explain how ADAM17 gene variants affect protein function. Many reduce its cutting activity, so important cell signals are released less efficiently. Milder variants may leave some residual activity, while more severe variants can greatly reduce or nearly abolish it. In people with ADAM17 related disease, lower remaining activity often links to earlier and more wide ranging symptoms.
How variants are linked to conditions
Pathogenic variants in both copies of the ADAM17 gene can cause a rare inherited condition with marked inflammation of the skin and intestines beginning in infancy, often called neonatal inflammatory skin and bowel disease. In people looking up ADAM17 gene variants linked to skin and bowel disease, this is the main well established association. Some affected children also have recurrent infections and poor growth.
A variant is not necessarily a diagnosis
Genetic variants are common across the general population and are a routine part of human biology. Most do not directly affect health and simply contribute to normal human diversity. For many genes, having a variant associated with a condition points to a possible link rather than a certain diagnosis, particularly when more than one gene and environmental influences play a role. In some 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?
There is not yet broadly confirmed evidence on specific factors that increase or reduce health risks related to ADAM17. Anyone concerned about personal or family risk can talk with a doctor or genetic counselor.
Inheritance of ADAM17 variants
ADAM17-related conditions that have been clearly described in people follow an autosomal recessive inheritance pattern. This means a child inherits one ADAM17 gene variant from each parent, and parents who each carry one variant are usually unaffected carriers. With each pregnancy, two carrier parents have a 25% chance of having a child with the condition, a 50% chance of having a child who is a carrier, and a 25% chance of having a child with no familial variant. In practical terms, the ADAM17 inheritance pattern affects males and females equally.
What does my ADAM17 result mean for my family?
Changes in the ADAM17 gene are linked to a rare inherited condition that usually runs in families in a recessive pattern. For family members, this often means parents can be healthy carriers, and brothers or sisters may also be affected or be carriers. Close relatives may want to learn whether the same gene change is present, especially if there is a family history of similar symptoms.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for ADAM17 variants usually uses a blood sample or cheek swab, and the lab reads the ADAM17 gene to look for changes in its DNA code. It may be done on the ADAM17 gene alone or as part of a larger panel or exome test. Results can show a disease-causing variant, a benign variant, or an uncertain finding.
When should I consider getting a genetic test?
Genetic testing for the ADAM17 gene may be considered when a baby or child has a rare pattern of severe skin inflammation, long-lasting diarrhea, poor growth, and repeated infections, especially if similar problems run in the family. It can also help clarify the cause when doctors suspect a very rare inherited immune or inflammatory condition.
A genetic result is only one part of your health story
A genetic finding can offer valuable insight, but how informative it is depends on both the condition and the type of variant. Age, lifestyle, environment, and medical history are among the many factors that influence how the body functions over time. In some conditions, especially those affected by many genes, genetic information provides context rather than certainty and is most useful when considered with the rest of a person’s care. In other situations, a genetic result can give a clear answer. In areas like medication response, it 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. This helps explain why the same drug may work well for one person, have less effect in another, or cause more side effects in someone else. In part, this is because inherited differences can change how the body breaks down a medicine, moves it through the body, or responds to it at its target.
What is Pharmacogenetics?
Pharmacogenetics is the area that examines how differences in genes affect the way people respond to medicines. It focuses on the relationship between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medications, genes can influence how strongly a drug works or how the body handles it. This information can support treatment decisions that are both better informed and more individualized. More details on this topic are available in the LearnHub.
Drugs influenced by the ADAM17 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medicine choices, so questions about symptoms, side effects, or how well a treatment is working are best discussed with your doctor. ADAM17 has been studied in research as a possible drug target in inflammation and cancer, but this has not become routine medication guidance.
History
In the 1990s, researchers identified the ADAM17 gene while searching for the enzyme that cuts tumor necrosis factor, a signal involved in inflammation. It was first widely known as TACE, short for TNF alpha converting enzyme, before being placed in the ADAM gene family and named the ADAM17 gene. Building on this early work, scientists showed that the same gene also helps release several other cell surface signals, which greatly expanded interest in it. That shift made the ADAM17 gene important not only in inflammation research, but also in cancer biology and developmental science. Over time, descriptions became more precise as gene sequencing and protein studies clarified its place in human biology. Today, its history is closely tied to the broader story of how cell signaling was mapped in modern genetics.