The CD44 gene gives cells instructions for a surface protein that helps them attach to nearby tissue, move when needed, and respond to signals involved in healing and immune defense. If this gene does not work normally, cells may not communicate well with their surroundings, which can affect tissue repair, inflammation, and how some cancers grow or spread. In medicine, this gene is important because changes in CD44 activity are often studied in tumors and inflammatory conditions.
What is a gene?
A gene is a stretch of DNA that carries instructions your cells use to make molecules or regulate processes in the body. Some genes provide the instructions for making proteins, the parts of cells that do much of the work. Others are mainly involved in controlling 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 also influence how you respond to food, stress, or medications. For a deeper look at this topic, more information is available in the LearnHub.
Overview
CD44Gene function
What if the gene works
The CD44 gene helps cells stick to their surroundings and communicate with nearby cells. It supports immune cell movement and tissue repair.
Risk
What if the gene does not work
Variants in the CD44 gene can mildly reduce or more strongly disrupt how cells bind hyaluronan, a slippery substance between cells. This can weaken cell sticking, movement, and signal exchange at the cell surface.
Treatment
What does that mean for your treatment
No established treatment or drug choice currently depends on a pathogenic or loss-of-function variant in the CD44 gene. In research, CD44 is being studied as a cancer biomarker and possible drug target, especially in tumors where higher CD44 activity may be linked to spread or reduced response to treatment.
Gene function
What if the gene works
Cells need the CD44 gene to stay connected to their surroundings and respond to nearby signals. Its protein sits on the cell surface, where it binds to hyaluronic acid, a substance that helps tissues hold water. This supports cell adhesion, cell movement, and guided immune cell travel.
CD44 helps cells attach to support material around them, especially hyaluronic acid. This gives cells a steady link to nearby tissue and helps them sense local conditions.
Cells use CD44 to grip, release, and regrip as they move through tissue. This makes normal cell migration more controlled during wound healing, everyday tissue renewal, and immune cell travel.
When CD44 binds material outside the cell, it helps pass messages inward. These signals can guide growth, survival, and how strongly a cell sticks or moves.
Many immune cells use CD44 as part of the system that helps them reach lymph nodes and areas of irritation or injury. This supports normal immune surveillance, meaning routine patrol for signs of infection or tissue stress.
What is a variant?
Genes can differ by small changes in their DNA sequence, called genetic variants. 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 have no noticeable effect and simply represent natural genetic variation. In some situations, 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
Variants in the CD44 gene can change how much CD44 protein reaches the cell surface, how stable it is, or how well it binds partner molecules such as hyaluronic acid. Some CD44 gene variants affect protein binding and cell signaling only slightly, often by altering how the RNA message is cut and joined, while more severe variants can shorten the protein or greatly reduce its activity. This functional range can lead to milder or stronger cellular effects.
How variants are linked to conditions
The CD44 gene does not yet have a broadly confirmed link to a specific inherited health condition, although research on conditions linked to CD44 gene variants is still evolving. Some studies have explored possible associations in different diseases, but these findings are not established enough to support a clear diagnosis based on this gene alone. Anyone with a confirmed CD44-related diagnosis should rely on guidance from their doctor or genetic counselor rather than general information.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are common throughout the general population. Most do not have a direct effect on health and instead represent natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when more than one gene and environmental factors are involved. In some cases, though, a single well-characterized 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 that specific lifestyle or environmental factors directly increase or reduce health risk because of the CD44 gene itself. Overall risk for conditions linked with CD44 is usually shaped by many other genes, age, exposures, and general health, so personal concerns are best discussed with a doctor or genetic counselor.
Inheritance of CD44 variants
There is not yet a broadly confirmed Mendelian inheritance pattern tied to a specific CD44-related condition, so how CD44 gene variants are inherited in clinical care is still being defined. The CD44 gene is located on chromosome 11, which is an autosome. That means you inherit one copy of the CD44 gene from your mother and one copy from your father. As research develops, some CD44 variants may be linked more clearly to particular health effects and inheritance patterns.
What does my CD44 result mean for my family?
There isn't yet a broadly confirmed inheritance pattern tied to a specific health condition for the CD44 gene, though this understanding can change as research develops. If you have a specific CD44 result and questions about what it could mean for your family, a doctor or genetic counselor can help explain it in the context of your personal and family history.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the CD44 gene, doctors use CD44 genetic testing on a blood sample, saliva, or a cheek swab. A lab reads the gene’s DNA code and compares it with the usual sequence to identify variants, which can help clarify whether a specific inherited change is present.
When should I consider getting a genetic test?
There is not yet a broadly established, CD44-specific clinical reason for genetic testing in most people. Decisions about testing are best made with a doctor or genetic counselor, based on your personal health history, family history, and the reason testing is being considered.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but how much it explains depends on the condition and on the type of variant involved. How the body works over time is shaped by many factors, including lifestyle, environment, age, and medical history. In some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best understood together with other parts of care. In other situations, a genetic result may give a clear answer. In areas such as medication response, genetic results can also help put individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in genes can change how the body breaks down a drug, moves it through the body, or responds to it at its target. This helps explain why the same medication may work well for one person, have less effect in another, or cause more side effects in someone who is more sensitive to it.
What is Pharmacogenetics?
Pharmacogenetics studies how genetic differences can affect a person’s response to medicines. It examines the relationship between genes and drugs to better explain why treatments may work differently from one person to another. For many medications, genes can influence both how the body processes a drug and how strong its effects are. This information can support treatment decisions that are more informed and more individualized. If you want to learn more about this topic, you can read further in the LearnHub.
Drugs influenced by the CD44 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in choosing or adjusting medicines, so questions about side effects, new symptoms, or how well a treatment is working are best discussed with your doctor. CD44 has been studied in cancer research because its activity may be linked with how some tumors respond to treatment, but it is not used routinely to guide medication decisions.
History
CD44 entered the scientific literature in the 1980s, when researchers studying immune cells realized that several seemingly different surface markers were actually the same molecule. Scientific classifications changed as researchers learned more about the gene. During the late 1980s and 1990s, work on CD44 helped connect cell adhesion research with cancer biology, especially questions about how tumor cells spread. Interest grew further when scientists identified multiple CD44 forms made through alternative splicing, meaning the gene could produce several related versions. In the 2000s, CD44 became widely used in laboratory studies as a marker to help sort certain cell populations, including some linked to tumor growth. These historical steps shaped today’s understanding of CD44 as an important gene in both immunology and cancer research.