The SLC25A26 gene helps move SAM, a natural molecule cells use for many chemical reactions, into mitochondria, the parts of cells that make energy. This gene plays an important role in keeping mitochondrial energy production and normal cell signaling working smoothly. If the SLC25A26 gene does not work properly, cells may not make enough energy, which can lead to muscle weakness, feeding or breathing problems, seizures, and heart or liver involvement, often beginning early in life.
What is a gene?
Genes are pieces of DNA that give your cells instructions to make molecules or to regulate processes in the body. Some genes hold the code for proteins, the parts of cells that do much of the work. Others mainly guide when certain processes happen, where they happen, and how strongly they run. Together, genes affect how the body develops and works, and they can shape how you respond to food, stress, and medications. More information on this topic is available in the LearnHub.
Overview
SLC25A26Gene function
What if the gene works
The SLC25A26 gene helps move an important helper molecule into mitochondria, the parts of cells that make energy. This supports normal energy production and routine chemical processes that help cells grow and work properly.
Risk
What if the gene does not work
When the SLC25A26 gene does not work properly, cells struggle to make energy, causing a mitochondrial condition with muscle weakness, developmental delay, hearing loss, or liver problems. Milder or more severe variants can influence which features appear and when.
Treatment
What does that mean for your treatment
No treatment or drug choice guided specifically by a pathogenic variant in the SLC25A26 gene is currently established. Management is based on the person’s symptoms and overall clinical picture rather than on a targeted medicine for this gene. The SLC25A26 gene is being studied in mitochondrial disease research and as a possible biomarker in some cancers, but this has not changed routine treatment.
Conditions associated with SLC25A26
Gene function
What if the gene works
Inside your cells, the SLC25A26 gene helps keep mitochondria, your cells' energy centers, supplied with an important small molecule called S-adenosylmethionine (SAM). SAM is used in several routine mitochondrial jobs, including chemical tagging and support for energy-related molecules. Understanding what the SLC25A26 gene does in mitochondria helps show how cells maintain steady day-to-day energy processes.
The SLC25A26 gene moves S-adenosylmethionine (SAM) into mitochondria. This gives these energy centers a steady supply of a molecule used in several essential reactions.
Inside mitochondria, SAM is used for methylation (small chemical tags that help molecules work normally). This supports routine chemical tagging of mitochondrial RNA and some proteins used in energy production.
SAM in mitochondria helps prepare the RNA needed to make some mitochondrial proteins. This supports the upkeep of the cell machinery that helps produce energy.
By supplying SAM, the SLC25A26 gene supports steps used to make helper molecules such as lipoic acid and coenzyme Q. These molecules help mitochondrial enzymes and energy pathways work normally.
What is a variant?
A genetic variant is a small change in the DNA sequence within a gene. These changes are common and are part of normal human diversity, such as 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. In some cases, though, a variant can change how a gene functions to a greater extent and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the SLC25A26 gene can alter the carrier protein’s shape or stability, or keep it from sitting properly in mitochondria, the parts of cells that make energy. This can reduce movement of S-adenosylmethionine, a molecule cells use to add chemical tags, into mitochondria. These SLC25A26 gene variants can affect mitochondrial function to different degrees: milder changes may leave some transport activity, while more severe variants can leave very little and may be linked to earlier or more marked symptoms.
How variants are linked to conditions
Pathogenic variants in the SLC25A26 gene can cause a rare inherited mitochondrial condition called combined oxidative phosphorylation deficiency 28, usually when both copies of the gene are affected. In this SLC25A26 gene and mitochondrial disease link, reported features include low muscle tone, feeding trouble, developmental delay, hearing loss, seizures, and lactic acidosis (a buildup of acid in the blood). Severity can range from illness in infancy to milder later onset disease.
A variant is not necessarily a diagnosis
Genetic variants are a routine part 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 suggests 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?
There isn't yet broadly confirmed evidence on specific factors that increase or reduce risk related to SLC25A26. For families with a disease-causing change in this gene, risk is mainly shaped by the inherited variant itself, and a doctor or genetic counselor can help explain personal and family risk.
Inheritance of SLC25A26 variants
For families asking how variants of the SLC25A26 gene are inherited, the established pattern is autosomal recessive. This means a person usually needs to inherit one altered copy from each parent to have an SLC25A26-related condition. Parents who each carry one variant are often unaffected, and with each pregnancy there is a 25% chance of having an affected child, a 50% chance of having a child who is a carrier, and a 25% chance of having a child who inherits neither variant.
What does my SLC25A26 result mean for my family?
For families with a disease-causing SLC25A26 result, this condition is passed down in a recessive pattern, so brothers and sisters may also be affected or may be healthy carriers. Parents are usually carriers, and other relatives on both sides of the family may carry the same gene change without knowing it. Family members may want to discuss whether testing would be useful, especially when planning a pregnancy.
Genetic information
Genetic testing
How you find out about variants
To look for changes in the SLC25A26 gene, genetic testing reads the DNA in a blood sample, saliva, or cheek swab. This is how you find out about variants in the SLC25A26 gene and whether a result shows a harmless change, one linked to a condition, or a finding that remains unclear.
When should I consider getting a genetic test?
Consider testing for the SLC25A26 gene if a child has signs of a rare inherited energy-related condition, such as severe muscle weakness, feeding problems, developmental delay, hearing loss, or similar family history. Testing can help confirm the cause and show whether parents carry the same gene change.
A genetic result is only one part of your health story
Genetic findings can offer useful insight, but how much they reveal varies by the condition and the type of variant involved. Over time, many factors, including lifestyle, environment, age, and medical history, influence how the body functions. In some conditions, especially those affected by many genes, genetic information provides context rather than certainty and is most useful when considered alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas such as medication response, genetic results can help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in genes can change how the body absorbs, breaks down, transports, or responds to a drug, so the same treatment may work well for one person but less well for another. These inherited differences are common and can influence how much benefit someone gets or how sensitive they are to side effects.
What is Pharmacogenetics?
Pharmacogenetics studies how differences in a person’s genes can affect the way they respond to medications. It examines gene drug patterns to help explain why the same treatment may work differently from one person to another. With many medicines, genes can influence how strongly a drug works or how the body handles it. This information can support treatment decisions that are more informed and more individualized. For a closer look at this topic, you can learn more in the LearnHub.
Drugs influenced by the SLC25A26 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how medicines will work, so questions about side effects, new symptoms, or whether a treatment is right for you are best discussed with your doctor or pharmacist.