The ADAM10 gene gives cells instructions for a protein that cuts other proteins at the cell surface, helping cells communicate, grow, and develop normally. If this gene does not work properly, important signals can be disrupted, which may affect brain development, skin, immune function, and other organs. The protein made by this gene helps your cells control when signals are turned on or released. Rare harmful variants in the ADAM10 gene have been linked to inherited conditions that can include developmental delay and seizures.
What is a gene?
A gene is a stretch of DNA that carries instructions cells use to make molecules or regulate processes in the body. Some genes hold the directions for producing proteins, the parts of cells that do the work. Others mainly control when certain processes occur, where they occur, and how strongly they operate. Together, genes affect how the body develops and functions, and they can also shape how you respond to food, stress, or medications. For a closer look at this topic, you can read more in the LearnHub.
Overview
ADAM10Gene function
What if the gene works
The ADAM10 gene helps cells cut and release surface proteins, which supports communication between cells. This activity is important for growth, tissue repair, immune function, and brain development.
Risk
What if the gene does not work
Milder to more severe variants in the ADAM10 gene can reduce how well cells cut and release surface proteins, including signals used for cell communication. This may disrupt pathways that guide cell growth, development, and nerve cell signaling.
Treatment
What does that mean for your treatment
For a pathogenic or loss-of-function variant in the ADAM10 gene, no ADAM10-specific treatment or drug-selection approach is currently established in clinical guidelines. ADAM10 is being studied as a possible drug target and biomarker, especially in Alzheimer disease and some cancers, but this has not yet changed routine care.
Conditions associated with ADAM10
Gene function
What if the gene works
Your cells constantly trim and refresh proteins on their surface so they can send signals and respond to change. The ADAM10 gene helps direct this quiet cleanup by making an enzyme that snips selected surface proteins. This is a central part of ADAM10 gene function in the body, especially for cell communication and tissue upkeep.
The ADAM10 protein acts like careful scissors at the cell surface. It cuts selected proteins so their outer pieces can be released or reshaped.
One of its main roles is to support Notch signaling (a system cells use to pass growth and development messages). A precise cut by ADAM10 helps that message move forward.
ADAM10 also processes some proteins that help neighboring cells attach to each other. This lets tissues adjust cell contact in a controlled way during normal renewal and organization.
By trimming older or active surface proteins, ADAM10 helps cells refresh the signals they display. This supports steady communication across many tissues.
What is a variant?
A genetic variant is a minor change in the DNA sequence within a gene. These changes are common and help explain normal differences among people, such as appearance, metabolism, or the way the body responds to environmental influences. Many do not cause any noticeable effect and are simply part of natural genetic variation. At times, though, a variant can change how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Understanding how variants influence the ADAM10 gene's function means looking at how DNA changes alter the protein's shape, stability, and delivery to the cell surface. Some missense variants leave a partly working protein, which can lower its protein-cutting activity or weaken how it binds other molecules. More severe variants may greatly reduce the amount of working protein or stop it from being processed correctly, leading to a stronger loss of function.
How variants are linked to conditions
Pathogenic variants in the ADAM10 gene cause reticulate acropigmentation of Kitamura, an inherited skin condition with small darker spots, slight skin thinning, and tiny pits on the hands and feet. Other ADAM10 gene variants linked to Alzheimer disease have been reported in research, but these findings reflect possible risk rather than a confirmed diagnosis.
A variant is not necessarily a diagnosis
Genetic variants are a normal feature of human biology and are common throughout the general population. Most have no direct impact on health and simply reflect natural human diversity. For many genes, carrying a variant connected with a condition indicates a possible association rather than a definite diagnosis, especially when several genes and environmental factors also play a role. In some situations, though, a single well-characterized variant in a specific gene can be 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 risk related to the ADAM10 gene. If you have an ADAM10 change on genetic testing, a doctor or genetic counselor can help put it in context with your personal and family history.
Inheritance of ADAM10 variants
For families wanting to understand how ADAM10 gene variants are inherited, the best-established pattern is autosomal dominant for ADAM10-related reticulate acropigmentation of Kitamura, a skin condition that can run in families. This means a person with a disease-causing variant in the ADAM10 gene has one changed copy and one usual copy. Each child has a 50% chance of inheriting that variant. Sons and daughters are affected and can pass it on in the same way.
What does my ADAM10 result mean for my family?
For the skin condition linked to the ADAM10 gene, close relatives such as parents, brothers, sisters, and children may also carry the same gene change and may have similar skin findings, even if these are mild. Because this pattern is usually passed down in families, a result in one person can be relevant to several relatives. The meaning for family members can differ if the ADAM10 result was found in a different health context.
Genetic information
Genetic testing
How you find out about variants
ADAM10 gene genetic testing usually uses a blood or saliva sample. A lab reads the DNA code in the ADAM10 gene to look for variants and reports whether a change is established, uncertain, or not linked to disease.
When should I consider getting a genetic test?
Genetic testing for the ADAM10 gene may be worth discussing if you or close relatives have a rare inherited skin condition with dark spots and small shallow pits on the backs of the hands and feet, called reticulate acropigmentation of Kitamura. ADAM10 changes have also been studied in Alzheimer’s disease, but that alone is not a routine reason for testing.
A genetic result is only one part of your health story
A genetic result can provide helpful insight, but the amount it reveals depends on the condition and on the kind of variant involved. Over time, many factors shape how the body functions, including lifestyle, environment, age, and medical history. For some conditions, particularly those shaped by many genes, genetic information offers context rather than certainty and is best 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. Small differences in DNA can change how the body absorbs, breaks down, or responds to a drug. This helps explain why the same treatment works well for one person, works less well for another, or causes more side effects in someone else. These differences are common and can influence both how effective a medicine feels and how sensitive a person is to it.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences affect the way a person responds to medications. It studies the relationship 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 the body processes a drug or how strongly it works. This understanding can support more informed, more individualized treatment decisions. More information about this topic is available in the LearnHub.
Drugs influenced by the ADAM10 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medicine choices. If you have concerns about side effects, unusual reactions, or how well a treatment is working, it is best to talk with your doctor or pharmacist.
History
ADAM10 entered genetics research in the 1990s, when scientists identified it as the human counterpart of a gene first studied in fruit flies, called kuzbanian. Early work placed the ADAM10 gene within a growing family of genes involved in cell surface protein processing, which became an important theme in modern biology. From these first observations, research expanded steadily. By the early 2000s, the ADAM10 gene had become well known in studies of cell signaling and brain disease, especially as researchers explored its link to Alzheimer’s disease pathways. Over time, scientists’ understanding of the gene’s role has changed, with newer studies connecting it to both rare inherited conditions and broader developmental research. These historical steps shaped today’s understanding.