The COL23A1 gene helps make a collagen protein on the surface of certain cells, where it supports cell attachment and the way tissues are organized. This gene plays an important role in how cells in the skin and other body linings connect with the tissue around them. If the gene does not work properly, these connections may be less stable, which can affect normal tissue behavior, and altered activity of the gene has also been studied in some cancers.
What is a gene?
Genes are sections of DNA that hold instructions your cells use to make molecules or regulate activities in the body. Some genes provide the directions for making proteins, which are the parts of cells that do much of the work. Others mainly help determine 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, and medications. For a deeper look at this topic, more information is available in the LearnHub.
Overview
COL23A1Gene function
What if the gene works
The COL23A1 gene helps make a collagen protein found on the surface of certain cells, especially in skin and other lining tissues. This protein supports how cells stick to nearby tissue and helps maintain normal tissue structure.
Risk
What if the gene does not work
When the COL23A1 gene works less well, cells may make too little collagen XXIII or a protein that does not sit properly on their surface. Milder variants may partly reduce cell attachment, while more severe variants can disrupt it more.
Treatment
What does that mean for your treatment
No treatment or management approach is currently established specifically for pathogenic or loss-of-function variants in the COL23A1 gene. Research is exploring the COL23A1 gene mainly as a possible biomarker in some cancers, rather than as a guide to current drug choices.
Gene function
What if the gene works
Many tissues work best when cells stay attached, aligned, and supported at their surface. The COL23A1 gene helps make a collagen protein that sits on the outer surface of certain cells, especially in tissue linings. Understanding what the COL23A1 gene does in the body helps explain how cells keep steady contact with their surroundings.
The COL23A1 gene helps certain cells stick to nearby cells and to the material around them. This steady attachment supports normal contact and positioning within a tissue.
Its protein sits at the cell surface, where it forms part of a supportive outer layer. This helps cells stay connected to their local environment during routine tissue function.
Many tissue linings depend on orderly layers of cells, such as skin and other body surfaces. COL23A1 supports that organization by helping cells remain aligned and anchored.
What is a variant?
A genetic variant is a minor change in the DNA sequence within a gene. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, or how the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some cases, 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
Descriptions of variants in the COL23A1 gene and their effects on protein function focus on how a DNA change can alter the collagen XXIII protein’s shape, stability, and placement at the cell surface. Milder variants may slightly reduce normal processing or release of the protein, while more disruptive variants can truncate it, impair folding, or lead to rapid breakdown inside the cell. These changes may weaken how the protein interacts with nearby structural proteins and other cell surface partners.
How variants are linked to conditions
The COL23A1 gene does not yet have a broadly confirmed link to a specific health condition, although research on COL23A1 gene variants and health conditions is still developing. Anyone with a confirmed variant in the COL23A1 gene 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 simply contribute to natural human diversity. For many genes, carrying a variant associated with a condition suggests a possible link rather than a definite diagnosis, especially when several genes and environmental factors also play a role. In some cases, however, 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 on specific factors that increase or reduce health risk related to the COL23A1 gene. If a change in COL23A1 is found on testing, its meaning often depends on the exact change and the rest of your health picture, so discussing personal risk with a doctor or genetic counselor can help.
Inheritance of COL23A1 variants
There is not yet a broadly confirmed, disease-specific Mendelian pattern for how COL23A1 variants are inherited. In practical terms, the answer to how COL23A1 variants are inherited is still evolving as research continues. The COL23A1 gene is located on chromosome 5, which is an autosome, so each person inherits one copy from each parent.
What does my COL23A1 result mean for my family?
There isn't yet a broadly confirmed inheritance pattern tied to a specific inherited condition for COL23A1, though this can change as research develops. If you have a specific COL23A1 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
Genetic testing for COL23A1 variants uses DNA from a blood sample or saliva sample. A lab reads the COL23A1 gene and compares it with a reference sequence to look for variants, then classifies findings as benign, uncertain, or likely disease causing based on established evidence.
When should I consider getting a genetic test?
There isn't yet a broadly established COL23A1-specific reason for genetic testing in routine care. Decisions about testing are usually based on your symptoms, family history, and the broader condition being evaluated, together with a doctor or genetic counselor.
A genetic result is only one part of your health story
A genetic test result can provide meaningful insight, but how much it explains depends on the condition and the type of variant involved. Over time, factors such as lifestyle, environment, age, and medical history also shape how the body works. In some conditions, especially those influenced by many genes, genetic information adds context rather than certainty and is best understood together with other aspects 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 perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body handles some medicines, so the same treatment may work a little differently from one person to another. These inherited differences can change how a drug is absorbed, broken down, moved through the body, or how strongly it acts where it is meant to work. As a result, some people get the expected benefit, while others may be more sensitive to side effects or may find the medicine works less well. This kind of variation is common and helps explain why medication response is not the same for everyone.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences affect the way people respond to medications. It focuses on the relationship between genes and drugs to help explain why the same treatment may work differently from one person to another. With many medications, genes can influence both how strongly a drug works and how the body handles it. This information can support more informed, more individualized treatment decisions. If you want to read more about this topic, you can learn more in the LearnHub.
Drugs influenced by the COL23A1 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication response, so questions about side effects, new symptoms, or how a medicine may be affecting you are best discussed with your doctor.