The NUP107 gene helps build the tiny gateways that control traffic into and out of a cell’s nucleus, where DNA is stored. This gene plays an important role in cell division and normal development. If it does not work properly, cells can struggle to move essential materials and organize growth signals. Certain pathogenic variants in the NUP107 gene are linked to differences in ovarian development and can lead to primary ovarian insufficiency in some people.
What is a gene?
Genes are sections of DNA that carry instructions your cells use to make molecules or direct processes in the body. Some genes hold the information needed to produce proteins, the parts of cells that do much of the work. Others mainly regulate when certain processes take place, where they occur, 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. For a more detailed look at this topic, you can learn more in the LearnHub.
Overview
NUP107Gene function
What if the gene works
The NUP107 gene helps build the pores that act like gates around the cell’s nucleus. This supports the controlled movement of important molecules and helps cells divide in an orderly way.
Risk
What if the gene does not work
Certain variants in the NUP107 gene can disrupt ovarian development in some people with 46,XX chromosomes, causing delayed puberty or primary ovarian insufficiency. Milder or more severe variants can cause different features, including nephrotic syndrome.
Treatment
What does that mean for your treatment
No treatment or drug choice is currently tailored specifically to pathogenic variants in the NUP107 gene. Care is guided by the person's diagnosed condition and symptoms, using standard management rather than the NUP107 variant itself.
Conditions associated with NUP107
Gene function
What if the gene works
Every day, your cells need a steady flow of instructions and materials between the nucleus, the cell's control center, and the rest of the cell. In your body, the NUP107 gene helps build the tiny gateways that manage this traffic. This is a central part of how the NUP107 gene helps move materials in and out of the cell nucleus. It also supports orderly cell division.
The NUP107 gene helps assemble the nuclear pore complex, a set of proteins that forms gateways in the membrane around the nucleus. These gateways give the nucleus a stable, organized link to the rest of the cell.
Through its protein, the NUP107 gene supports the movement of proteins and RNA (working copies of genetic instructions) into and out of the nucleus. This controlled traffic helps cells use genetic instructions at the right time.
During cell division, the NUP107 gene helps nuclear pores come apart and form again at the right time. It also supports the machinery that lines up and separates chromosomes so new cells can form 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 account for normal human diversity, such as differences 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 cases, however, a variant can more significantly change how a gene works and may contribute to or lead to a genetic condition.
Genetic variants
What if the gene does not work
Variants in the NUP107 gene can change the protein’s shape, stability, or ability to join the nuclear pore complex, the gateway that moves key molecules in and out of the cell nucleus. These changes explain how NUP107 gene variants affect cell transport and, in some cases, the machinery used during cell division. Milder variants may leave some activity, while more severe variants can sharply reduce or stop this work, which may influence how early and how strongly related features appear.
How variants are linked to conditions
Certain inherited variants in the NUP107 gene are known to cause 46,XX gonadal dysgenesis, a condition in which the ovaries do not develop or function as expected. People with this NUP107-related diagnosis may have delayed puberty, absent periods, and reduced fertility. This is a rare but well-established gene-condition link.
A variant is not necessarily a diagnosis
Genetic variants are a common, expected part of human biology in the general population. Most have no direct impact 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 is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For NUP107, there is not yet broadly confirmed evidence on specific lifestyle or environmental factors that increase or reduce gene-related risk. In families with a disease-causing NUP107 change, the chance of developing related health problems is mainly shaped by the inherited variant itself, and a doctor or genetic counselor can help explain personal and family risk.
Inheritance of NUP107 variants
Variants in the NUP107 gene are inherited in an autosomal recessive pattern. This means a child usually needs to inherit two altered copies of the NUP107 gene, one from each parent, to have a NUP107-related condition. Parents who each carry one variant are often unaffected carriers, and with each pregnancy there is a 25% chance the child will inherit both altered copies, a 50% chance the child will be a carrier, and a 25% chance the child will inherit neither variant.
What does my NUP107 result mean for my family?
For families with a disease-causing NUP107 result, the pattern is usually recessive, which means parents are often healthy carriers and brothers or sisters may also be carriers or, more rarely, have the condition. Close relatives may want to learn whether the same change runs in the family, especially when there is a history of kidney problems or differences in ovarian development. The meaning for relatives depends on the exact result and the condition linked to it.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for NUP107 variants uses a blood or saliva sample to look for changes in the NUP107 gene. It may be ordered as single-gene testing or included in a larger panel or exome test. Results may show a disease-causing variant, no relevant variant, or an uncertain result that is not yet fully understood.
When should I consider getting a genetic test?
Testing for the NUP107 gene may be considered in girls or women with delayed puberty, no periods, or early loss of ovarian function, especially when similar fertility problems run in the family. It can also be part of a broader genetic workup for differences in sex development or unexplained infertility.
A genetic result is only one part of your health story
Genetic findings can provide meaningful insight, but how much they reveal varies based on the condition and the type of variant involved. Over time, many factors, including lifestyle, environment, age, and medical history, shape how the body functions. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best understood alongside other parts of care. In other situations, a genetic result can provide a clear answer. In areas such as medication response, genetic results may help put individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Some people break down a drug more slowly or more quickly, while others may be more or less sensitive to its effects. This helps explain why the same treatment can work well for one person, seem weaker for another, or cause more side effects in someone else.
What is Pharmacogenetics?
Pharmacogenetics examines how inherited genetic differences affect a person’s response to medications. By looking at connections between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medicines, genes influence both how strongly a drug works and how the body processes it. This information can support treatment decisions that are more informed and more individualized. To explore this subject in greater detail, you can learn more in the LearnHub.
Drugs influenced by the NUP107 gene
When should I seek medical advice?
There is no broadly confirmed evidence that changes in this gene affect how medicines work, so questions about treatment, side effects, or new symptoms are best discussed with your doctor.
History
In recent decades, awareness of the NUP107 gene’s role has grown through research on the nuclear pore, the structure that helps materials move in and out of the cell nucleus. NUP107 was identified as one of the key proteins in this system during broader efforts to map the parts of the nuclear pore complex in human cells. As medical science evolved, so did understanding of this gene, and scientists later placed it within a larger group of tightly linked pore proteins often called the NUP107-160 complex. That work helped connect basic cell biology with human health. More recently, variants in the NUP107 gene were linked to some inherited conditions affecting ovarian development and, in some families, kidney features, bringing the gene from laboratory research into clinical genetics.