The TMEM67 gene gives instructions for a protein that helps tiny cell structures called cilia act like sensors, especially during early development of the brain, kidneys, liver, and eyes. This gene plays an important role in how cells receive signals that guide organ growth and function. If it does not work properly, these signals can be disrupted, and some organs may not form or work in the usual way. Pathogenic variants in the TMEM67 gene are linked to conditions such as Joubert syndrome and Meckel syndrome, which can affect movement, vision, breathing, kidney health, and liver health.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or for directing activities in the body. Some genes carry the code for proteins, the parts of cells that do much of the work. Other genes mostly regulate when certain processes happen, where they happen, and how strongly they run. Together, genes affect how the body develops and functions, and they can also influence how you respond to food, stress, or medications. To explore this topic in more detail, you can learn more in the LearnHub.
Overview
TMEM67Gene function
What if the gene works
The TMEM67 gene helps build and run tiny cell antennas called cilia. These cilia guide growth signals that support normal development, especially in the brain, kidneys, liver, and eyes.
Risk
What if the gene does not work
Variants in the TMEM67 gene can disrupt cilia, the tiny cell structures that guide early organ development. Milder to more severe variants may lead to Joubert spectrum features, often with liver or kidney involvement, or to Meckel syndrome before birth.
Treatment
What does that mean for your treatment
No treatment or drug choice plan specific to the TMEM67 gene is currently established. Management is based on the person’s kidney, liver, eye, and brain findings rather than on the TMEM67 variant itself. The TMEM67 gene is being studied in ciliopathy research, but this has not yet led to guideline based, gene directed treatment.
Conditions associated with TMEM67
Gene function
What if the gene works
The TMEM67 gene helps your cells manage a tiny surface structure called a primary cilium, which works like a sensing antenna. Its protein sits near the cilium's base and helps keep that area organized. Understanding what the TMEM67 gene does in your cells helps explain how cells sort and receive important signals.
The TMEM67 gene helps organize the base of the primary cilium, the small antenna on many cells. This base area anchors the cilium and keeps its parts lined up for steady everyday use.
Its protein is part of a gate at the cilium base that controls which proteins can move in and out. This sorting system helps the cilium keep the right tools in the right place.
Many cells use primary cilia to pick up outside messages about growth, shape, and timing. The protein made by the TMEM67 gene helps this signaling hub pass those messages along in an orderly way.
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, including variations in appearance, metabolism, and the way the body reacts to environmental influences. Many do not produce any noticeable effect and are simply part of natural genetic diversity. At times, though, a variant changes how a gene works more significantly and can contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants influence the TMEM67 gene's function by reducing the amount of TMEM67 protein, changing its shape, or stopping it from reaching the primary cilium (a tiny antenna-like structure on many cells). Milder variants may leave some activity, while more severe variants can lead to little or no working protein. This range often helps explain why conditions linked to TMEM67 can differ, from later milder Joubert syndrome features to earlier, broader effects seen in some cases of Meckel syndrome.
How variants are linked to conditions
Pathogenic variants in the TMEM67 gene can cause several inherited conditions, most often Joubert syndrome, including forms with liver disease once called COACH syndrome, and Meckel syndrome. Some TMEM67 variants also lead to kidney-predominant conditions such as nephronophthisis. In families looking into TMEM67 gene variants linked to Joubert syndrome or Meckel syndrome, these links are well established in medical genetics.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are common across the general population. Most do not directly affect health and instead 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 particular gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For TMEM67, risk is mainly shaped by the variants inherited in a family, not by lifestyle or everyday exposures. A child is at higher risk of a TMEM67-related condition when both parents carry a harmful TMEM67 variant. There is not enough evidence to say that diet, exercise, or other habits lower this genetic risk.
Inheritance of TMEM67 variants
Variants in the TMEM67 gene are usually inherited in an autosomal recessive pattern. This means a child inherits one nonworking copy from each parent. Parents are often healthy carriers, and when both carry a TMEM67 gene variant, each pregnancy has a 25% chance of being affected, a 50% chance of resulting in a child who is also a carrier, and a 25% chance of inheriting neither variant. In families asking about the TMEM67 inheritance pattern, this same recessive pattern is the one most consistently linked to TMEM67 related conditions.
What does my TMEM67 result mean for my family?
For families with a disease-causing TMEM67 result linked to a recognized condition, this usually means the condition runs in a recessive way. Parents are often healthy carriers, and brothers or sisters may also be affected or may be carriers even if they feel well. Other close relatives may also carry the same gene change, so the result can matter for family planning and for understanding risks in the wider family.
Genetic information
Genetic testing
How you find out about variants
To look for changes in the TMEM67 gene, doctors use genetic testing for TMEM67 variants, usually on a blood or saliva sample. A lab reads the DNA code and checks for variants that may help explain an inherited condition.
When should I consider getting a genetic test?
Consider TMEM67 testing if a child or pregnancy shows signs of a rare inherited condition affecting the brain, kidneys, liver, or eyes, or if there is a family history of Joubert syndrome or Meckel syndrome. Testing can help confirm the cause and clarify the chance of it happening again in a family.
A genetic result is only one part of your health story
A genetic result can provide helpful insight, but how much it reveals varies by the condition and the type of variant involved. Many factors, including lifestyle, environment, age, and medical history, influence how the body works over time. For some conditions, especially those shaped by many genes, genetic information provides context rather than certainty and is best understood alongside other aspects of care. In other situations, a genetic result can offer a clear answer. In areas such as 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. A treatment that works well for one person may work less well for another, or may cause more side effects, because the body can absorb, break down, and handle the same drug in different ways. These differences are common and can influence how strongly a medicine works or how sensitive someone is to it.
What is Pharmacogenetics?
Pharmacogenetics is the area of study that examines how genetic differences affect medication response. It focuses on connections 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 strongly a drug works or how the body handles it. This information can support more informed, individualized treatment decisions. If you want to learn more about this topic, additional information is available in the LearnHub.
Drugs influenced by the TMEM67 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in how people respond to medicines, so questions about treatment, side effects, or new symptoms are best discussed with your doctor or pharmacist.
History
TMEM67 entered medical genetics through studies of families affected by Meckel syndrome, where researchers mapped the cause to a region on chromosome 8 before identifying the gene itself in the mid 2000s. Initially understood only through visible traits, later recognized as tied to a specific gene, it was first widely known as MKS3 in the research literature. From these first observations, research expanded steadily, linking TMEM67 to Joubert syndrome and related conditions. This helped shift thinking toward the broader idea of ciliopathies, a group of inherited conditions with shared biological roots. Over time, descriptions became more precise as genetic testing made it easier to connect TMEM67 variants with a wider range of clinical findings. Today, its history is part of the larger story of how rare family patterns led to clearer genetic diagnosis.