The NUP133 gene helps build tiny gates in the wall around each cell’s nucleus, allowing important molecules to move in and out. If it does not work properly, cells may struggle to control normal growth and day to day activity. This gene plays an important role in tissues that need steady filtering and development. Some people with disease-causing variants in the NUP133 gene develop kidney conditions such as steroid-resistant nephrotic syndrome, and in some cases brain development can also be affected.
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 directions for building proteins, the parts of cells that do the work. Other genes are used mainly to regulate when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
NUP133Gene function
What if the gene works
Your cells use the NUP133 gene to help build nuclear pores, the gateways that control movement in and out of the cell nucleus. This supports normal gene activity and cell division.
Risk
What if the gene does not work
More disruptive NUP133 variants can cause a rare condition with steroid-resistant nephrotic syndrome and differences in brain development, including microcephaly and developmental delay. Milder variants may cause later onset or less severe features.
Treatment
What does that mean for your treatment
For people with a pathogenic or loss of function variant in the NUP133 gene, no NUP133-specific treatment or drug selection approach is currently established, so care follows standard symptom-based supportive treatment.
Conditions associated with NUP133
Gene function
What if the gene works
Every cell has to move working molecules in and out of its nucleus, the control center that stores DNA. The NUP133 gene helps build and support the gateways that manage this traffic. This keeps routine cell activity organized and explains what the NUP133 gene does in cells each day.
Protein from the NUP133 gene helps assemble nuclear pores, tiny openings in the membrane around the nucleus. These pores act like controlled doorways between the nucleus and the rest of the cell.
Through its protein, the NUP133 gene supports the movement of RNA messages and proteins through these doorways. This lets working copies of DNA instructions leave the nucleus while needed proteins move back in.
As part of a larger protein team, the NUP133 gene helps hold the pore's outer framework in place. This keeps transport organized during everyday cell activity.
After cells divide, protein from the NUP133 gene helps rebuild nuclear pores around each new nucleus. This allows normal traffic to restart in both new cells.
What is a variant?
A genetic variant is a small difference in the DNA sequence within a gene. These changes are common and are part of normal human diversity, including 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 functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the NUP133 gene can change the protein’s shape or stability, so it may not join the nuclear pore correctly or support transport in and out of the nucleus. This pattern helps explain how variants influence the NUP133 gene’s function: milder missense variants may leave partial activity, while more severe variants can greatly reduce protein levels or leave the protein unable to work. Greater loss of function is linked to earlier or more marked kidney and developmental features.
How variants are linked to conditions
Pathogenic variants in the NUP133 gene cause a rare inherited condition often described as NUP133-related kidney disease and developmental delay, also called Galloway-Mowat syndrome 8. People with this condition may develop steroid-resistant nephrotic syndrome, smaller head size, growth differences, and delayed development. When disease-causing variants are found in both copies of the NUP133 gene, this can confirm the diagnosis.
A variant is not necessarily a diagnosis
Genetic variants are common across the general population and are a normal part of being human. Most do not directly affect health and simply reflect natural human variation. For many genes, having a variant associated with a condition points to a possible link rather than a certain diagnosis, particularly when several genes and environmental influences play a role. In some situations, though, one well-characterized variant in a particular gene is 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 NUP133 gene. For many living with a change in NUP133, risk is shaped mainly by the specific gene change itself rather than by known lifestyle factors, and a doctor or genetic counselor can help explain personal risk.
Inheritance of NUP133 variants
For families trying to understand how NUP133 gene variants are inherited, the established pattern is autosomal recessive. This means a child usually inherits one altered copy of the NUP133 gene from each parent. Parents who carry one variant are typically healthy carriers, and with each pregnancy they have a 25% chance of having a child with both altered copies, a 50% chance of having a carrier child, and a 25% chance of having a child without the familial variant. Because the NUP133 gene is on a nonsex chromosome, this pattern is the same for boys and girls.
What does my NUP133 result mean for my family?
For NUP133, the best-known related condition follows a recessive pattern. This usually means parents can be healthy carriers, while brothers and sisters may also be affected or may be carriers. Other relatives on both sides of the family may carry the same gene change, especially if there is a family history of similar kidney or growth problems.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for NUP133 variants usually uses a blood or saliva sample. A lab reads the DNA sequence of the NUP133 gene, often as part of a kidney disease or broader gene panel, to look for variants and classify whether a finding helps explain symptoms or family history.
When should I consider getting a genetic test?
Genetic testing for the NUP133 gene may be worth considering when a child has very early kidney disease, especially nephrotic syndrome, along with small head size, delayed development, or similar findings in close relatives. It can also help clarify the cause when this pattern runs in a family or when standard kidney testing has not explained it.
A genetic result is only one part of your health story
A genetic finding can provide useful insight, but how much it explains varies with the condition and the kind of variant involved. Factors like lifestyle, environment, age, and medical history also shape how the body functions over time. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and makes the most sense when considered with other parts of care. In other situations, a genetic result can give a clear answer. In areas like medication response, it can help put personal experiences in context.
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 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 is the area of study that looks at how genetic differences can affect a person’s response to medication. It examines connections between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes can influence how strongly a drug works or how the body processes it. This information can support more informed and individualized treatment decisions. You can read more about this topic in the LearnHub.
Drugs influenced by the NUP133 gene
When should I seek medical advice?
There is no broadly confirmed role for this gene in guiding medication choice or response at this time, so general questions about symptoms, side effects, or medicines are best discussed with your doctor.
History
NUP133 came into view during the late 1990s and early 2000s, when researchers were working out the makeup of the nuclear pore complex, the gateway that controls movement between the cell nucleus and the rest of the cell. From these first observations, research expanded steadily. Scientists identified the NUP133 gene as one of the conserved building blocks of this structure across species, which made it useful in basic cell biology research. Later, clinical reports connected variants in the NUP133 gene with rare inherited kidney conditions, giving the gene a clearer place in medical genetics. Its history is largely a story of careful laboratory discovery rather than public attention or a single landmark event.