The TMEM107 gene helps build and control primary cilia, tiny structures on cells that act like antennas during early development. If this gene does not work properly, cell signaling can be disturbed, which may affect how the brain, eyes, kidneys, and bones develop. Pathogenic variants in the TMEM107 gene are linked to rare inherited conditions, including some forms of Joubert syndrome and related conditions. TMEM107 is mainly known in medical genetics rather than popular culture.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or directing processes in the body. Some genes hold the information needed to make proteins, the parts of cells that do much of the work. Others mainly help control when certain processes happen, where they take place, and how strongly they run. Taken together, genes influence how the body develops and functions, and they can affect how you respond to food, stress, or medications. If you want to look into this topic more deeply, you can learn more in the LearnHub.
Overview
TMEM107Gene function
What if the gene works
Many cells rely on the TMEM107 gene to build and maintain cilia, tiny structures that sense signals. It also helps control which proteins enter cilia, supporting normal growth and development.
Risk
What if the gene does not work
Faulty changes in the TMEM107 gene can disrupt tiny cell structures called cilia, which guide body development. Milder to more severe variants are linked to Joubert syndrome and related ciliopathies, with effects ranging from developmental differences to brain, kidney, or limb involvement.
Treatment
What does that mean for your treatment
No TMEM107-specific treatment or management approach is currently established. Care is guided by the person’s symptoms and affected organs, rather than by a drug choice linked to the TMEM107 gene. Research on the TMEM107 gene is helping scientists understand related conditions, but it has not yet led to a guideline-based therapy.
Conditions associated with TMEM107
Gene function
What if the gene works
Many of your cells use tiny, hair-like structures called primary cilia to sense signals from their surroundings. The TMEM107 gene helps cells build and organize these structures, especially at the cilia base. This helps explain TMEM107 gene function in primary cilia, which act like small cellular sensors.
The TMEM107 gene helps cells form primary cilia, which are tiny projections that sense outside signals. Its protein gathers near the cilia base and supports the structure as the cilium is assembled.
At the base of each cilium, the TMEM107 gene helps create the transition zone (a gate-like area that controls entry). This area helps keep the right proteins inside the cilium and others out.
By keeping cilia organized, the TMEM107 gene supports how cells receive and pass along important signals. This helps cells respond to cues used in everyday cell communication and body patterning.
What is a variant?
A genetic variant is a small difference in the DNA sequence within a gene. These differences are common and help shape normal human diversity, such as variation in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some situations, however, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
In ciliopathies linked to the TMEM107 gene, how TMEM107 gene variants affect protein function often depends on the type of DNA change. Some variants make the protein unstable, shorten it, or stop it reaching the tiny hair-like cell structures called cilia. Milder variants may leave some activity, while more disruptive variants can greatly reduce or remove function. This broader cilia failure is often linked to earlier or more pronounced features.
How variants are linked to conditions
Pathogenic variants in the TMEM107 gene are a confirmed cause of Joubert syndrome and have also been linked to oral-facial-digital syndrome type XVI, so TMEM107 gene variants and Joubert syndrome are the best-established association. These are inherited conditions, usually found when a person has disease-causing variants in both copies of the gene. People with these diagnoses may have differences in early development, muscle tone, balance, breathing, and sometimes features affecting the mouth, face, or fingers.
A variant is not necessarily a diagnosis
Gene variants are common in the general population and are a normal part of human biology. Most have no direct effect on health and simply reflect 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 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 risks related to the TMEM107 gene. In families with a disease-causing TMEM107 change, risk is mainly shaped by the inherited gene change itself, and anyone concerned about personal or family risk should speak with a doctor or genetic counselor.
Inheritance of TMEM107 variants
Variants in the TMEM107 gene are inherited in an autosomal recessive pattern. This means a child usually inherits one altered copy from each parent, and each pregnancy between two carriers has a 25% chance of being affected, a 50% chance of resulting in a carrier child, and a 25% chance of resulting in a child without the familial variants. In practical terms, how TMEM107 gene variants are inherited often becomes clear only after more than one family member is tested or a child is diagnosed. Parents who each carry one variant are usually unaffected.
What does my TMEM107 result mean for my family?
For families, a TMEM107 result is most often relevant in a recessive way, which means parents can be healthy carriers and brothers or sisters may also be carriers or, less often, have the same condition. Close relatives may want to learn whether the result runs in the family, especially if there is a history of similar findings or pregnancy losses. The meaning for relatives depends on the exact TMEM107 variant and the condition linked to it.
Genetic information
Genetic testing
How you find out about variants
TMEM107 genetic testing looks for variants in the TMEM107 gene using a blood sample, saliva, or a cheek swab. A lab reads the gene’s DNA to check for changes that may help confirm a suspected inherited condition. Results may show a variant linked to disease, a harmless variant, or a variant of uncertain significance.
When should I consider getting a genetic test?
Testing may be considered if a child or pregnancy shows signs of a rare inherited condition that can affect brain development, the face, fingers or toes, the kidneys, or the liver, or if a close relative has a known TMEM107 variant. A genetic result 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 useful insight, yet how much it reveals varies with the condition and the kind of variant involved. Lifestyle, environment, age, and medical history are among the many factors that influence how the body functions over time. For some conditions, particularly those shaped by many genes, genetic information offers context rather than certainty and makes the most sense when considered with the rest of a person’s care. In other situations, a genetic result can give a clear answer. In areas like medication response, genetic results can also help make sense of individual experiences.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body absorbs, breaks down, transports, or responds to a drug, so the same treatment may work better for one person than for another. This is a common reason why some people get more benefit, some notice fewer effects, and others are more sensitive to side effects.
What is Pharmacogenetics?
Pharmacogenetics examines the way genetic differences affect a person’s response to medicines. By studying links between genes and medications, it helps explain why the same treatment can have different effects in different people. With many drugs, genes can influence both how powerfully a medicine works and how the body handles it. Understanding this can support treatment choices that are better informed and more personalized. More information on this topic is available in the LearnHub.
Drugs influenced by the TMEM107 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 general questions about treatment, side effects, or changes in your health are best discussed with your doctor.