The NUP93 gene helps build nuclear pores, the tiny gateways that move important materials in and out of a cell’s control center. If this gene does not work properly, cells in the kidney’s filters may be injured, which can lead to protein leaking into the urine, swelling, and kidney disease that may begin in childhood. This gene plays an important role in keeping these filter cells stable.
What is a gene?
A gene is a stretch of DNA that holds instructions your cells use to make molecules or regulate processes throughout the body. Some genes provide the directions for building proteins, which are the working parts of cells. Others mainly control when certain processes happen, where they take place, and how active they are. Together, genes influence how the body develops and works, and they can shape how you respond to food, stress, or medications. To explore this topic in more detail, you can learn more in LearnHub.
Overview
NUP93Gene function
What if the gene works
The NUP93 gene helps build tiny gates around a cell’s control center. These gates regulate what moves in and out, which supports normal cell activity, including in kidney filtering cells.
Risk
What if the gene does not work
Variants in the NUP93 gene can cause steroid-resistant nephrotic syndrome by affecting the kidney’s filters, often from infancy or childhood. Milder or more severe variants may influence when it starts and how much kidney function is affected.
Treatment
What does that mean for your treatment
No treatment or drug choice is currently tailored specifically to a pathogenic variant in the NUP93 gene. Care usually follows standard management for the related kidney condition, and the NUP93 gene is mainly being studied to better understand kidney filter injury rather than to guide a specific medicine.
Conditions associated with NUP93
Gene function
What if the gene works
Every cell has to move key molecules in and out of its nucleus in a controlled way. The NUP93 gene helps build and support the gateways that handle this traffic. It also helps explain how the NUP93 gene helps move proteins into the nucleus while allowing genetic messages to exit at the right time.
The NUP93 gene helps form the main framework of the nuclear pore, the gateway in the membrane around the nucleus. This support helps keep the pore stable during everyday cell activity.
NUP93 supports the controlled passage of proteins and RNA through the nuclear pore. This lets important signals enter the nucleus and newly made RNA leave for use elsewhere in the cell.
This gene helps the nuclear pore stay selective, so the nucleus remains protected while needed molecules can still pass through. That balance helps the cell keep its internal activities organized.
What is a variant?
A genetic variant is a minor difference in the DNA sequence within a gene. These differences are common and help shape normal human diversity, including differences in appearance, metabolism, and the way the body responds to environmental influences. Many variants do not lead to any noticeable effect and are simply part of natural genetic diversity. In some situations, though, a variant can change how a gene works more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the NUP93 gene can change the shape or stability of the NUP93 protein, making it harder for cells to build a working nuclear pore, the gateway that controls traffic in and out of the nucleus. This helps explain how NUP93 gene variants affect protein function and kidney disease. Milder variants may leave some protein activity, while more severe variants can sharply reduce or stop it, often linking to earlier onset and more persistent kidney problems.
How variants are linked to conditions
Pathogenic variants in the NUP93 gene cause a kidney condition called steroid-resistant nephrotic syndrome, often with focal segmental glomerulosclerosis. In many families, NUP93 gene variants linked to nephrotic syndrome are associated with progressive chronic kidney disease, and some affected people later need dialysis or a transplant. Different variants can be associated with different ages of onset and different levels of kidney involvement.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and occur commonly across the general population. Most do not directly affect health and simply reflect natural variation among people. 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 specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For NUP93, there is not broadly confirmed evidence that specific lifestyle or environmental factors clearly increase or reduce the underlying genetic risk. In families with a disease-causing NUP93 change, the chance of kidney problems is mainly tied to the variant itself, so regular follow-up and early monitoring matter most.
Inheritance of NUP93 variants
NUP93-related kidney conditions are inherited in an autosomal recessive pattern. This means a child usually inherits one NUP93 gene variant from each parent, and parents who carry one variant are typically unaffected carriers. When both parents carry a variant, each pregnancy has a 25% chance of the child inheriting both variants, a 50% chance of being a carrier, and a 25% chance of inheriting neither variant. In practice, this is how NUP93 gene variants are inherited in the well-established conditions linked to this gene.
What does my NUP93 result mean for my family?
For families with a disease-causing NUP93 result, this condition is usually passed down in a recessive way, which means parents are often healthy carriers. Brothers and sisters may also be affected or may be carriers, so they may want to discuss family testing. More distant relatives can sometimes be carriers too, especially on the same side of the family.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry variants in the NUP93 gene, labs use genetic testing for NUP93 variants on a blood sample, cheek swab, or saliva sample. The test reads the DNA sequence of the NUP93 gene, often as part of a kidney gene panel or exome sequencing, and compares it with the usual sequence to classify any variant found.
When should I consider getting a genetic test?
Genetic testing for the NUP93 gene may be worth considering when a child or young adult has a kidney condition that causes heavy protein loss in the urine, swelling, and poor response to steroid treatment, especially if it runs in the family. It can help explain the cause and clarify whether the condition is inherited.
A genetic result is only one part of your health story
A genetic result can give useful insight, but how much it explains varies by the condition and by the type of variant involved. Many factors, including lifestyle, environment, age, and medical history, also influence how the body works over time. In some conditions, especially those shaped by many genes, genetic information provides context rather than certainty and is most useful when viewed alongside other parts of care. In other situations, a genetic result can offer 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. One person may break down a drug more slowly or more quickly than another, which can change how strongly it works or how likely side effects are. These differences are common and are one reason the same treatment can feel very different from person to person.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genes affect the way people respond to medications. It looks at gene and drug patterns to help explain why the same treatment may work differently from one person to another. For many medicines, genes influence either how strongly a drug works or how the body handles it. This information can support more informed and more individualized treatment decisions. You can learn more about this topic in the LearnHub.
Drugs influenced by the NUP93 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how medicines will work or which side effects may happen. For questions about symptoms, treatment, or any concerns about a medicine you take, it is best to speak with your doctor.