The NME5 gene helps support the tiny moving structures called cilia and the tail of sperm cells, which are needed for normal movement. If the NME5 gene does not work properly, these structures may move poorly or form abnormally, which can lead to male infertility and may affect how some tissues function. Most people who learn about the NME5 gene do so during fertility testing or broader genetic testing.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or regulate processes in the body. Some genes hold the instructions for making proteins, the parts of cells that do the work. Others mainly help control when certain processes happen, where they happen, and how active they are. Together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medications. For a closer look at this topic, you can learn more in the LearnHub.
Overview
NME5Gene function
What if the gene works
The NME5 gene helps build and support cilia and sperm tails, the hair-like structures that move fluid and help sperm swim. It is especially active in the testes and airways.
Risk
What if the gene does not work
When the NME5 gene does not work properly, it is linked mainly to male infertility because sperm tails do not form or move normally. Milder and more severe variants can affect how much sperm shape and movement are changed.
Treatment
What does that mean for your treatment
For a pathogenic or loss-of-function variant in the NME5 gene, no gene-specific treatment or drug selection approach is currently established in clinical guidelines. Current research mainly examines how the NME5 gene affects cilia and sperm movement, rather than targeted medicines.
Conditions associated with NME5
Gene function
What if the gene works
NME5 helps certain cells manage movement through tiny hairlike structures called cilia and flagella. These structures line some tissues and also form the tail of sperm cells. By supporting their internal framework and coordinated motion, the NME5 gene contributes to smooth, organized cell activity.
The NME5 gene helps organize the microtubules (tiny support fibers) that form the core of moving cilia and flagella. This steady framework gives these structures their shape and supports controlled motion.
In moving cilia, NME5 supports the regular back-and-forth motion that helps shift fluid across cell surfaces. This is part of how the NME5 gene supports cilia movement in the body.
In sperm cells, NME5 is part of the tail machinery that supports a steady beat pattern. This helps explain how the NME5 gene supports sperm movement.
What is a variant?
A genetic variant is a minor change in the DNA sequence within a gene. These changes are common and help explain normal differences between people, including appearance, metabolism, and how the body reacts to environmental influences. Many variants do not cause any noticeable effect and are simply part of natural genetic variation. 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 NME5 gene can change the protein’s shape, stability, or ability to join the cell structures that drive coordinated movement, which helps explain how NME5 gene variants affect protein function. Milder variants may leave some activity in place, while more severe loss-of-function variants can greatly reduce the amount of protein made or prevent it from working within cilia and sperm tails. This creates a spectrum of functional impact rather than one fixed effect.
How variants are linked to conditions
Variants in the NME5 gene do not yet have a broadly confirmed link to a specific health condition, though this may change as research develops. Studies continue to explore whether variants in the NME5 gene are linked to conditions in people, but no primary diagnosis is currently established from this gene alone in routine care. Anyone with a confirmed variant in the NME5 gene should interpret it alongside their personal and family history with a doctor or genetic counselor.
A variant is not necessarily a diagnosis
Genetic variants are a routine feature of human biology and are widely seen across the general population. Most do not directly affect health and instead reflect normal human variation. For many genes, having a variant associated with a condition indicates a possible link rather than a confirmed diagnosis, particularly when several genes and environmental factors also contribute. In some situations, though, a single well understood variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There isn't yet broadly confirmed evidence on specific factors that increase or reduce health risk related to the NME5 gene. If a change in NME5 is found on testing, a doctor or genetic counselor can help explain what it may mean for your personal and family risk.
Inheritance of NME5 variants
For people trying to understand how NME5 gene variants are inherited, there is not yet a broadly confirmed disease specific inheritance pattern for the NME5 gene in routine clinical genetics. Research on this gene is still developing, so inheritance details may become clearer over time. The NME5 gene is located on chromosome 5, which is an autosome, so each person inherits one copy from each parent.
What does my NME5 result mean for my family?
Changes in the NME5 gene linked to a recognized condition are usually passed down in a recessive pattern. For family members, this often means parents can be healthy carriers, and brothers, sisters, or future children may also carry the same gene change or, in some cases, be affected. Close relatives may want to learn whether the same result runs in the family.
Genetic information
Genetic testing
How you find out about variants
To look for changes in the NME5 gene, doctors use genetic testing for NME5 variants on a blood, saliva, or cheek swab sample. A lab reads the gene's DNA sequence and compares it with the usual sequence to see whether a variant is present.
When should I consider getting a genetic test?
There is not yet a broadly established, NME5-specific reason for genetic testing in routine care. Testing decisions are usually based on your symptoms and personal or family history, together with a doctor or genetic counselor.
A genetic result is only one part of your health story
Genetic results can provide useful insight, but what they can tell you varies with the condition and the kind of variant involved. Over time, how the body functions is 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 parts of care. In other situations, a genetic result may give a clear answer. In areas like 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 your body responds to certain medicines. Some people process a drug faster or more slowly, which can change how well it works or how sensitive they are to side effects. This is one reason the same treatment may help one person more, feel weaker in another, or seem too strong at a usual dose.
What is Pharmacogenetics?
Pharmacogenetics is the area of study that examines how genetic differences affect the way people respond to medications. It focuses on links between genes and drugs to help 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 more informed, more individualized treatment decisions. More details on this topic are available in the LearnHub.
Drugs influenced by the NME5 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication response, so questions about side effects, new symptoms, or how medicines may work for you are best discussed with your doctor.
History
NME5 entered the scientific literature as researchers were sorting out the wider NM23, now NME, gene family in the 1990s. Early work focused on finding related genes that shared sequence patterns with better known family members, and NME5 was identified as one of these newer branches. From these first observations, research expanded steadily, with studies mapping the gene and comparing it with similar genes in humans and other species. Scientific classifications changed as researchers learned more about the gene, including the shift from older NM23 naming to the current NME system. Over time, this placed NME5 within a clearer genetic family tree. Its history is mainly one of careful laboratory discovery rather than public headlines.