The SEC23A gene gives your cells instructions for moving newly made proteins to the right place, especially collagen, which supports bone, skin, and other connective tissues. This gene helps your body build and maintain tissues that need a strong structural framework. If the gene does not work properly, proteins can get stuck inside cells, and this may lead to a rare inherited condition with slow skull bone closure, distinctive facial features, and clouding of the eye lens.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or guide processes in the body. Some genes hold the information needed to produce proteins, the parts of cells that do much of the work. Other genes mainly regulate when certain processes happen, where they occur, and how strongly they run. Together, genes affect how the body develops and functions, and they can influence how you respond to food, stress, or medications. If you want to look into this topic more deeply, you can find more in the LearnHub.
Overview
SEC23AGene function
What if the gene works
The SEC23A gene helps cells move newly made proteins from the area where they are folded to the area where they are finished and shipped. This is especially important for collagen, which supports skin, bones, and other connective tissues.
Risk
What if the gene does not work
Variants in the SEC23A gene can cause cranio-lenticulo-sutural dysplasia, affecting skull bone growth, facial shape, and eye lenses. Milder and more severe variants can influence when features appear and how marked they are.
Treatment
What does that mean for your treatment
No treatment or drug choice is currently guided specifically by a pathogenic variant in the SEC23A gene. The SEC23A gene is being studied in early research on cell protein transport and some cancers, but this does not yet guide care.
Conditions associated with SEC23A
Gene function
What if the gene works
Every day, your cells need to pack and send proteins to the right place. The SEC23A gene helps run this early shipping step by moving proteins from the endoplasmic reticulum (the area where proteins are made) toward the Golgi apparatus, the cell’s sorting center. This steady flow supports normal cell upkeep and tissue building.
The SEC23A gene helps cells gather newly made proteins into small transport carriers. It works with partner proteins to sort cargo that is ready to leave the endoplasmic reticulum.
Its protein helps form the COPII coat (a temporary protein shell) around each carrier. This gives the carrier shape and helps it bud off from the endoplasmic reticulum.
SEC23A is especially important for sending out large structural proteins such as collagen. This supports the steady building and maintenance of connective tissues throughout the body.
What is a variant?
A genetic variant is a minor change in the DNA sequence within a gene. These changes are common and help shape normal human diversity, such as differences in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not cause any 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 SEC23A gene can change the protein’s shape or stability, so cells are less able to move newly made proteins out of the endoplasmic reticulum (the cell’s protein factory). This helps explain how SEC23A gene variants affect protein transport. Milder variants may leave some activity, while more severe variants can sharply reduce protein export and, when both copies are affected, are linked to earlier or more noticeable features of the related skeletal condition.
How variants are linked to conditions
Pathogenic variants in the SEC23A gene cause cranio-lenticulo-sutural dysplasia, a very rare inherited condition that affects skull and facial bone growth and may also include cataracts. In practice, SEC23A gene variants linked to cranio-lenticulo-sutural dysplasia are usually found in both copies of the gene. When that pattern is present in a person with matching features, it can confirm the diagnosis.
A variant is not necessarily a diagnosis
Variants in genes are a normal part of human biology and are widely found in the general population. Most do not have a direct effect on health and simply reflect 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 are involved. 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 health risk related to the SEC23A gene. For many living with a SEC23A change, risk depends most on the exact genetic change and whether one or both copies of the gene are affected.
Inheritance of SEC23A variants
SEC23A-related conditions are inherited in an autosomal recessive pattern. This means a child usually needs to inherit one altered copy of the SEC23A gene from each parent to be affected, while parents who carry one altered copy are typically unaffected carriers. For families looking into how SEC23A variants are inherited, each pregnancy between two carriers has a 25% chance of an affected child, a 50% chance of a child who is an unaffected carrier, and a 25% chance of a child who inherits neither altered copy.
What does my SEC23A result mean for my family?
For families with a disease-causing change in the SEC23A gene, the pattern is usually recessive, which means parents may be healthy carriers and brothers or sisters could also be affected or be carriers. Close relatives may also carry the same gene change, especially on the parents’ side of the family. This can be useful information for family planning and for relatives who want to understand their own chances of carrying it.
Genetic information
Genetic testing
How you find out about variants
SEC23A genetic testing uses a blood or saliva sample to read the DNA code and look for variants in the SEC23A gene. It may be done as single gene testing, as part of a broader panel, or through exome sequencing. Results can show whether a variant helps explain a person’s features or supports a diagnosis.
When should I consider getting a genetic test?
Genetic testing for the SEC23A gene may be considered if a child has a rare inherited condition that affects skull growth, facial shape, and the eye lenses, known medically as craniolenticulosutural dysplasia. It may also help when this condition runs in a family or when planning a future pregnancy.
A genetic result is only one part of your health story
Genetic results can be informative, but what they can tell you varies with the condition and the specific type of variant. Over time, the way your body functions is also shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, particularly those affected by many genes, genetic information offers context rather than certainty and makes most sense when considered with the rest of a person’s care. In other situations, a genetic finding may give a clear answer. In areas like medication response, these 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 treatment works well for one person, seems weaker for another, or causes more side effects in someone else. Part of the reason is that inherited differences can change how the body breaks down, moves, or responds to a drug, which can influence both benefit and sensitivity.
What is Pharmacogenetics?
Pharmacogenetics explores how genetic differences can shape a person’s response to medications. It examines links between genes and drugs to better explain why the same treatment can work differently from one person to another. For many medicines, genes may affect both how strongly a drug works and how the body processes it. This understanding can help support treatment decisions that are more informed and more personalized. More on this topic is available in the LearnHub.
Drugs influenced by the SEC23A gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication response, so general medication concerns are best discussed with your doctor. Seek medical advice if you have side effects, your treatment is not working as expected, or you are starting a new medicine and want to review how it fits with your overall health.
History
Research on the SEC23A gene grew out of classic yeast studies in the 1970s and 1980s, when scientists identified a group of “SEC” genes involved in moving proteins through cells. From these first observations, research expanded steadily. The human SEC23A gene later drew medical attention when variants were linked to cranio lenticulo sutural dysplasia, a rare inherited condition first described in affected families in the mid 2000s. That finding helped connect a long studied cell biology pathway with a recognizable human condition. Since then, SEC23A has remained a useful example of how discoveries in basic laboratory genetics can lead to clearer answers for families with rare inherited traits.