The IFT140 gene gives instructions for a protein that helps build and maintain cilia, the tiny structures on many cells that sense signals and help move fluid. This gene helps your body support normal development of the kidneys, eyes, bones, and lungs. If the gene does not work properly, cilia may not function well, which can lead to inherited conditions that may include kidney disease, vision problems, short stature, and changes in bone growth. Effects can vary a lot from person to person.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or for guiding activities in the body. Some genes carry the code for proteins, which do much of the cell’s work. Others are used mainly to regulate 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 your response to food, stress, and medicines. More detail is available in the LearnHub.
Overview
IFT140Gene function
What if the gene works
Your cells use the IFT140 gene to build and maintain cilia, tiny hairlike structures that sense signals. Its protein helps move materials within cilia so organs can develop and function normally.
Risk
What if the gene does not work
Variants in the IFT140 gene can cause ciliopathy conditions affecting the kidneys, eyes, and bone growth, ranging from isolated kidney cysts to syndromes with short stature and retinal degeneration. Milder variants may cause later, narrower features.
Treatment
What does that mean for your treatment
No IFT140-specific treatment or management approach is currently established for pathogenic or loss-of-function variants in the IFT140 gene.
Conditions associated with IFT140
Gene function
What if the gene works
Many cells depend on small structures called cilia to sense their surroundings and organize signals. The IFT140 gene helps keep these structures supplied, organized, and working smoothly. Understanding IFT140 gene function helps explain how cells manage these important surface sensors.
The IFT140 gene helps move proteins and other cell materials along the length of the cilium. This steady transport supplies the tip with needed parts and brings used materials back toward the cell body.
IFT140 supports the assembly and ongoing maintenance of primary cilia, which act like tiny antennae on the cell surface. This helps many cells keep the right structure for everyday sensing.
Healthy cilia help cells receive and pass along chemical messages that guide growth, timing, and tissue organization. By supporting cilia transport, the IFT140 gene helps these signals stay orderly and well coordinated.
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. Sometimes, though, a variant can change how a gene functions more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the IFT140 gene can weaken or disrupt the IFT140 protein, making it less stable, changing its shape, or stopping it from joining the cell’s cilia transport machinery. This shows how IFT140 gene variants affect function and why some changes are milder while others cause a larger loss of transport activity. Milder variants may leave some activity, while more disruptive variants, especially those that truncate the protein, often lead to earlier and more pronounced ciliopathy features.
How variants are linked to conditions
Pathogenic variants in the IFT140 gene cause a ciliopathy spectrum that includes Mainzer-Saldino syndrome and short-rib thoracic dysplasia type 9. These conditions often involve kidney disease. Vision loss from retinal degeneration, hearing loss, and skeletal changes can also occur, but the mix and severity vary. The link between IFT140 gene variants and kidney disease is especially well established, and some single-copy variants are also associated with a pattern similar to autosomal dominant polycystic kidney disease.
A variant is not necessarily a diagnosis
Gene variants are a normal feature of human biology and are common throughout 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 indicates a possible link rather than a definite diagnosis, especially when more than one gene and environmental factors play a role. In some cases, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For IFT140, the main factor that changes risk is the specific gene change inherited in a family. There is not yet broadly confirmed evidence that lifestyle or environmental factors clearly increase or reduce the chance of IFT140-related conditions, so anyone with questions about personal or family risk should speak with a doctor or genetic counselor.
Inheritance of IFT140 variants
The inheritance pattern for IFT140-related conditions can differ depending on the specific condition and the kind of variant involved. Many well-established IFT140-related ciliopathies are inherited in an autosomal recessive way, which means a child inherits one altered copy of the IFT140 gene from each parent, and carrier parents are often unaffected. Some kidney conditions linked to a single altered copy of the IFT140 gene follow an autosomal dominant pattern, so the variant can pass from an affected parent to a child with a 50% chance in each pregnancy. This is the key point in understanding how IFT140 variants are inherited within families.
What does my IFT140 result mean for my family?
IFT140 can be linked to more than one inherited condition, so what it means for family members depends on the exact result. In families with recessive IFT140 conditions, parents are often healthy carriers, and brothers or sisters may also be affected or be carriers. In families with a dominant IFT140-related condition, close relatives such as a parent, sibling, or child may also carry the same gene change.
Genetic information
Genetic testing
How you find out about variants
Testing for variants in the IFT140 gene is usually done with a blood or saliva sample. IFT140 genetic testing reads the gene's DNA code to look for changes that may help explain certain findings or confirm a suspected inherited condition.
When should I consider getting a genetic test?
Consider testing for the IFT140 gene if you or close relatives have inherited kidney cysts or kidney failure, especially with vision loss or a history of short stature or unusual bone growth. It can also help explain a family history of these kidney, eye, or bone conditions.
A genetic result is only one part of your health story
A genetic result can provide meaningful insight, but how much it explains depends on the condition and the type of variant involved. Over time, how the body works is also shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, especially those influenced by many genes, genetic information offers 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 such as 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 people respond to medicines. This happens because your body may absorb, break down, transport, or react to a drug a little differently from someone else’s body. These differences are common and can influence how well a treatment works or how likely you are to notice side effects.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in a person’s genes can shape their response to medications. By looking at the relationship between genes and drugs, it helps 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 treatment decisions that are better informed and more individualized. More detail on this topic is available in the LearnHub.
Drugs influenced by the IFT140 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in medication response, so any concerns about side effects, new symptoms, or changes in treatment are best discussed with your doctor or pharmacist.
History
In recent decades, awareness of this gene’s role has grown through research on tiny cell structures called cilia. The IFT140 gene was identified as part of the intraflagellar transport system, a set of genes that move materials along cilia and helped shape modern understanding of ciliopathies, a group of inherited conditions linked to cilia problems. From these first observations, research expanded steadily. Scientists then connected variants in the IFT140 gene with syndromes affecting the kidneys, bones, and eyes, including Mainzer-Saldino syndrome and related conditions. More recently, broader genetic testing showed that IFT140 variants can also appear in people with isolated kidney disease, which widened the clinical picture and improved recognition of this gene in medical genetics.