The ADAM23 gene helps nerve cells connect and pass signals, especially in the brain. It plays an important role in keeping communication between brain cells organized. If this gene does not work properly, brain signaling can be disrupted, and some people may develop seizures, developmental delay, or problems with movement and coordination. Most variants in the ADAM23 gene have little effect, but rare pathogenic variants can be an important cause of a neurologic condition.
What is a gene?
Genes are sections of DNA that carry instructions your cells use to make molecules or to direct processes in the body. Some genes provide the instructions for producing proteins, the parts of cells that do the work. Other genes mainly regulate when certain processes happen, where they occur, and how strongly they operate. Together, genes influence how the body develops and functions, and they can also affect how you respond to food, stress, or medications. For a deeper look at this topic, you can learn more in the LearnHub.
Overview
ADAM23Gene function
What if the gene works
The ADAM23 gene helps nerve cells in the brain connect and communicate. Its protein supports signaling at junctions between nerve cells and healthy nervous system development.
Risk
What if the gene does not work
Severe variants in the ADAM23 gene can cause a condition with early seizures, delayed development, and movement or balance problems. Milder variants may lead to later onset and fewer or milder neurologic features.
Treatment
What does that mean for your treatment
For a pathogenic or loss-of-function variant in the ADAM23 gene, no ADAM23-specific treatment or management approach is currently established. Treatment is guided by the person's symptoms, such as standard anti-seizure medicines or supportive therapies when needed. The ADAM23 gene is also being studied as a possible biomarker in some cancers, but this has not led to guideline-based treatment choices.
Gene function
What if the gene works
Much of what the ADAM23 gene does in the body centers on nerve cell communication. Its activity is especially important in the brain, where cells need stable contacts and well-organized signaling. Rather than cutting other proteins, its protein mainly sits at the cell surface and helps cells connect and coordinate.
The ADAM23 gene helps nerve cells and nearby cells make stable surface contacts. These contacts support organized tissue structure and help cells respond to signals around them.
In the brain, this gene helps organize synapses, the contact points where nerve cells pass messages. Its protein acts like a docking partner on the cell surface, helping key signaling proteins line up in the right place.
By helping build orderly nerve cell connections, the ADAM23 gene supports smooth communication between brain cells. This steady setup helps everyday signaling in brain networks stay coordinated.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These differences are common and help shape normal human diversity, including variations in appearance, metabolism, and how the body responds to environmental influences. Many variants do not have any noticeable effect and are simply part of natural genetic variation. In some cases, though, a variant changes how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
How variants influence the ADAM23 gene's function depends on whether a DNA change partly weakens the protein or more strongly disrupts it. Some ADAM23 variants reduce how much protein reaches the cell surface or weaken its contact with partner proteins, while more severe variants can stop the protein from being made properly or make it break down early. In people with ADAM23-related epilepsy, these differences in function can help explain why symptoms may vary in timing and severity.
How variants are linked to conditions
Rare, disease-causing variants in the ADAM23 gene can cause developmental and epileptic encephalopathy, a group of conditions that often includes early seizures and delayed development. Research on the ADAM23 gene and epilepsy also suggests that some more common variants may be linked to seizure risk in the wider population, but these findings describe risk trends and do not predict whether one person will develop epilepsy.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are widely found in the general population. Most do not have a direct effect on health and simply reflect normal human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a certain diagnosis, particularly when several genes and environmental factors also play a part. In some situations, though, a single well-characterized variant in a specific gene is enough to confirm the 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 risk related to the ADAM23 gene. If you have concerns about your personal or family risk, a doctor or genetic counselor can help put genetic results in context.
Inheritance of ADAM23 variants
There is not yet a broadly confirmed, disease-specific Mendelian pattern for how ADAM23 gene variants are inherited in people, so the answer to how ADAM23 gene variants are inherited remains cautious and research-based rather than fixed. Current evidence has not established ADAM23 as a gene with one clear autosomal dominant, autosomal recessive, or X-linked inheritance pattern for a well-defined human condition. The ADAM23 gene is located on chromosome 2, which is an autosome, so each person inherits one copy from each parent.
What does my ADAM23 result mean for my family?
For ADAM23, the best-established family pattern is recessive, which usually means both parents carry one changed copy without having symptoms themselves. For family members, this mainly matters for brothers and sisters, who may also be affected or be carriers, and for relatives planning children, who may want to learn whether they carry the same change. The exact impact depends on the specific ADAM23 result and the condition linked to it.
Genetic information
Genetic testing
How you find out about variants
Variants in the ADAM23 gene are found with genetic testing, usually from a blood sample or saliva sample. In genetic testing for variants in the ADAM23 gene, a lab reads the gene’s DNA sequence and compares it with the usual sequence to look for changes. Results may show a benign variant, a variant of uncertain significance, or a pathogenic variant.
When should I consider getting a genetic test?
There is not yet a broadly established reason to get genetic testing just for the ADAM23 gene. Testing decisions are usually based on your symptoms and family history, together with a doctor or genetic counselor.
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 on the type of variant. Over time, many factors shape how the body works, including lifestyle, environment, age, and medical history. For some conditions, especially those affected 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. This helps explain why the same medication may work well for one person, do little for another, or cause more side effects in someone else, because the body can differ in how it breaks down, moves, or responds to a drug. These differences are common and can influence both how effective a treatment feels and how sensitive a person is to it.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in a person’s genes can shape their response to medicines. By studying links between genes and medications, it helps explain why the same treatment may affect people in different ways. For many drugs, genes influence how strongly a medicine works or how the body handles it. This information can support more informed, individualized treatment choices. More detail on this topic is available in the LearnHub.
Drugs influenced by the ADAM23 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how people respond to medicines, so general health concerns or questions about side effects, new symptoms, or treatment changes are best discussed with your doctor.
History
ADAM23 entered the scientific literature in the late 1990s, during a period when researchers were identifying many members of the ADAM gene family. Initially understood only through visible traits, later recognized as tied to a specific gene, its place in human genetics became clearer as mapping and sequencing methods improved. Early work focused on naming the gene and placing it within a broader group of related genes. From these first observations, research expanded steadily, especially as studies began linking ADAM23 to inherited epilepsy in some families and to changes seen in certain cancers. Over time, descriptions became more precise as scientists distinguished ADAM23 from closely related genes and clarified its relevance in neurology and cancer research.