The TMEM231 gene helps cells build and use primary cilia, tiny antenna-like structures that carry signals important for growth and organ development. If this gene does not work properly, those signals can be disrupted, which may affect the brain, eyes, kidneys, liver, and how the body forms before birth. Pathogenic variants in both copies of the TMEM231 gene are linked to inherited conditions caused by cilia problems, including Joubert syndrome and Meckel syndrome. TMEM231 is mainly known in medical genetics rather than popular culture.
What is a gene?
A gene is a stretch of DNA that holds instructions your cells use to make molecules or regulate processes in the body. Some genes carry the information needed to produce proteins, the parts of cells that do the work. Other genes mainly guide when certain processes happen, where they take place, and how strongly they occur. As a whole, genes affect how the body develops and works, and they can shape how you respond to food, stress, or medications. To go deeper into this topic, you can find more in the LearnHub.
Overview
TMEM231Gene function
What if the gene works
The TMEM231 gene helps build the gate of the primary cilium, a tiny antenna on many cells. This gate helps control cell signals that guide normal development and tissue function.
Risk
What if the gene does not work
Pathogenic variants in the TMEM231 gene can cause Joubert syndrome and, less often, Meckel syndrome. Effects can range from milder balance, eye movement, and developmental problems to more severe brain, kidney, liver, or limb differences.
Treatment
What does that mean for your treatment
For pathogenic or loss-of-function variants in the TMEM231 gene, no TMEM231-specific treatment or drug selection approach is currently established. Care is guided by the person’s symptoms and which organs are affected, rather than by a TMEM231-directed medicine.
Conditions associated with TMEM231
Gene function
What if the gene works
Your cells rely on the TMEM231 gene to support tiny antenna-like structures called primary cilia. These structures help cells sense signals from their surroundings and coordinate normal growth. At the base of each cilium, the TMEM231 gene helps keep a well-organized entry point so the right proteins are in the right place.
The TMEM231 gene helps build the transition zone, a gate-like area at the base of a cilium. This area separates the cilium from the rest of the cell in a controlled way.
At this gate, the TMEM231 gene helps control which proteins can enter or remain in the cilium. That sorting supports normal primary cilia function and keeps signaling tools in place.
By organizing the cilium's base, the TMEM231 gene helps cells sense and relay outside signals. This supports everyday cell communication in many tissues.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These changes are common and contribute to 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 cases, though, a variant can change the function of a gene more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the TMEM231 gene can make the TMEM231 protein unstable, shortened, or unable to reach the cilia transition zone, a checkpoint that controls which molecules move in and out of the cell’s tiny signaling antennae. Many TMEM231 gene variants also weaken its links with partner proteins, which can disturb this gate and reduce cilia signaling. Milder variants may leave some protein activity, while more severe variants can largely remove it, often lining up with earlier onset or broader features in TMEM231 related conditions.
How variants are linked to conditions
Pathogenic variants in the TMEM231 gene can cause Joubert syndrome and, less often, Meckel syndrome. In people with TMEM231 gene variants linked to Joubert syndrome, doctors may also look for related eye, kidney, or liver findings. These are inherited conditions, and a confirmed disease-causing TMEM231 variant can help establish the diagnosis in the right clinical setting.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are widely seen in the general population. Most do not have a direct effect on health and instead reflect normal human variation. For many genes, having a variant associated with a condition suggests a possible link rather than a definite diagnosis, especially when several genes and environmental factors contribute. In some situations, 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?
For TMEM231, risk is mostly shaped by the gene changes a baby inherits rather than by lifestyle or everyday habits. The chance is higher when both parents carry a harmful TMEM231 change, especially in families with a known history of the condition or when the parents are blood relatives.
Inheritance of TMEM231 variants
TMEM231-related conditions are inherited in an autosomal recessive pattern. In practical terms, TMEM231 gene inheritance usually means a child must receive one altered copy of the TMEM231 gene from each parent to be affected. Parents who each carry one variant are often healthy themselves, and with each pregnancy there is a 25% chance the child will inherit both variants, a 50% chance the child will be a carrier, and a 25% chance the child will inherit neither variant. This pattern applies to the well-established ciliopathy conditions linked to the TMEM231 gene.
What does my TMEM231 result mean for my family?
For TMEM231-related conditions, the usual family pattern is recessive, which means parents are often healthy carriers. Brothers and sisters may also be carriers or, less often, have the condition, so close relatives may want to talk with their care team about whether family testing makes sense. For future children in the same family, the chance can repeat if both parents carry a TMEM231 change.
Genetic information
Genetic testing
How you find out about variants
Variants in the TMEM231 gene are usually found with multigene panel testing or broader sequencing on a blood or saliva sample, which reads the gene's code to look for changes. TMEM231 genetic testing can help confirm a suspected inherited ciliopathy and may clarify whether family members carry the same variant.
When should I consider getting a genetic test?
Genetic testing for the TMEM231 gene may be considered when a baby, child, or pregnancy shows signs of a rare inherited condition that can affect brain development, the kidneys, liver, or extra fingers or toes, especially if similar problems run in the family. It can also help when a TMEM231 gene change is already known in a relative.
A genetic result is only one part of your health story
A genetic result can be informative, but what it can tell you varies based on the condition and the specific type of variant. How your body functions over time is also shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is most useful 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. 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 examines how genetic variation affects the way people respond to medicines. It looks at relationships between genes and medications to help explain why the same treatment can work differently in different people. With many drugs, genes can influence both how strongly the medicine works and how the body handles it. This information can support treatment decisions that are better informed and more tailored to the individual. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the TMEM231 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how medicines will work, so medication questions and new or worsening symptoms are best discussed with your doctor. Seek medical advice if a treatment is not helping, causes side effects, or if you have concerns about how medicines fit with your overall health.
History
TMEM231 entered the genetics literature as researchers worked to explain a group of rare inherited conditions now understood as ciliopathies, conditions linked to problems in the cell’s tiny hairlike structures. In recent decades, awareness of this gene’s role has grown through studies of families affected by Joubert syndrome and Meckel syndrome. From these first observations, research expanded steadily, and TMEM231 became part of a broader shift toward mapping the genes involved in cilia related conditions. Scientists then connected TMEM231 to a set of genes studied together at the ciliary transition zone, an area that helps control what enters and leaves the cilium. Although TMEM231 has not had the public spotlight of some better known genes, its discovery helped clarify why several rare conditions can share overlapping features.