The SLC13A3 gene makes a transporter that moves small energy related molecules, including citrate and succinate, into cells, especially in the kidneys and brain. This gene helps your body recycle these molecules and support normal cell energy balance. If both copies of the SLC13A3 gene do not work properly, a person may develop a rare condition with temporary brain symptoms, such as confusion, seizures, or movement changes, often during illness. Doctors may also see changes on brain scans and unusual buildup of certain body chemicals.
What is a gene?
A gene is a stretch of DNA that gives your cells instructions they can use to make molecules or regulate processes in the body. Some genes provide the directions for producing proteins, which are the working parts of cells. Other genes mainly control when certain processes happen, where they happen, and how strongly they occur. Taken together, genes influence how the body develops and functions, and they can also shape how you respond to food, stress, or medications. To go into this topic in more detail, you can read more in the LearnHub.
Overview
SLC13A3Gene function
What if the gene works
The SLC13A3 gene helps cells take up certain small acids, including succinate, from outside the cell. This is especially important in the kidneys and brain, where it supports energy balance and the recycling of useful molecules.
Risk
What if the gene does not work
Biallelic variants in the SLC13A3 gene can cause episodes of reversible brain white matter changes, often with temporary weakness, drowsiness, or walking problems. Milder and more severe variants may influence when episodes start and how intense they are.
Treatment
What does that mean for your treatment
No SLC13A3-specific treatment or management approach is currently established, so care is guided by the person’s symptoms rather than by a proven gene-targeted drug choice.
Gene function
What if the gene works
Your cells need a steady supply of certain small acids to make energy and keep everyday chemistry running smoothly. The SLC13A3 gene helps move several of these molecules into cells, especially where the body recovers and reuses them. This work is most important in the kidneys and also supports normal activity in other tissues.
The SLC13A3 gene uses sodium to bring small energy related acids, including succinate and citrate, into cells. This gives cells access to useful molecules they can reuse in daily metabolism.
In the kidneys, this transporter helps reclaim these molecules from the forming urine back into the body. That supports normal conservation of substances your body can still use.
By moving these compounds across cell membranes, it supports energy pathways and normal cell chemistry. This is a core part of what the SLC13A3 gene does in the body.
What is a variant?
A genetic variant is a small difference in the DNA sequence within a gene. These differences are common and help shape normal human diversity, including variations in appearance, metabolism, and how the body responds to environmental influences. Many have no noticeable effect and are simply part of natural genetic variation. Sometimes, however, a variant changes how a gene works more substantially and can contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the SLC13A3 gene can reduce how much transporter reaches the cell surface or how well it moves molecules such as succinate and α-ketoglutarate into cells. How SLC13A3 gene variants affect protein function can range from milder missense changes with partial activity to more severe splice or truncating variants that leave little or no working transporter, causing a broader loss of cellular uptake.
How variants are linked to conditions
Variants in the SLC13A3 gene do not yet have a broadly confirmed link to a specific health condition, and current evidence on what SLC13A3 gene variants are linked to may change as research develops. Anyone with a confirmed SLC13A3-related diagnosis should rely on guidance from their doctor or genetic counselor rather than general information.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are widely found in the general population. Most do not have a direct effect on health and simply contribute to normal human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when several genes 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 is not yet broadly confirmed evidence on specific factors that increase or reduce health risk related to the SLC13A3 gene. People with concerns about their personal or family risk can talk with a doctor or genetic counselor for guidance.
Inheritance of SLC13A3 variants
SLC13A3-related conditions are inherited in an autosomal recessive pattern. This means a person usually develops the condition only when they inherit two disease-causing variants in the SLC13A3 gene, one from each parent. Parents who each carry one variant are typically unaffected carriers, and with each pregnancy they have 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 with neither variant. This is the main answer to how SLC13A3 variants are inherited.
What does my SLC13A3 result mean for my family?
For families affected by SLC13A3-related illness, the pattern is recessive, which usually means parents are healthy carriers and brothers or sisters could also be affected or be carriers. Close relatives may want to learn whether the same gene change runs in the family, especially if there is a history of similar episodes after illness or fever. Children of an affected person are usually carriers unless the other parent also carries a SLC13A3 change.
Genetic information
Genetic testing
How you find out about variants
To find out about variants in the SLC13A3 gene, a lab can analyze DNA from a blood sample, saliva, or cheek swab using SLC13A3 genetic testing. The test reads the gene’s sequence and compares it with the usual version to identify variants, which a genetics professional interprets alongside symptoms and family history.
When should I consider getting a genetic test?
Genetic testing for the SLC13A3 gene may be worth considering if a child has unexplained episodes of sudden brain symptoms, such as trouble walking, seizures, or confusion, especially during a fever or infection. It can also help when similar episodes run in the family.
A genetic result is only one part of your health story
Genetic test results can provide useful insight, but how much they reveal varies by the condition and by the type of variant involved. Many factors, including lifestyle, environment, age, and medical history, influence how the body works over time. For some conditions, especially those shaped by many genes, genetic information provides context rather than certainty and is best considered alongside other parts of care. In other situations, a genetic result may offer a clear answer. In areas such as medication response, genetic results can also help explain individual experiences.
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 reacts to a drug, so the same treatment may work well for one person but less well for another. This is a common reason people can differ in benefit or in how sensitive they are to side effects.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences affect the way people respond to medicines. It focuses on links between genes and drugs to help explain why treatments can work differently from one person to another. For many medications, genes influence both how strongly a drug works and how the body handles it. This information can support more informed, individualized treatment decisions. To explore this subject in more detail, you can learn more in the LearnHub.
Drugs influenced by the SLC13A3 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication response, so general concerns about medicines, side effects, or your health are best discussed with your doctor.
History
SLC13A3 entered the scientific literature in the late 1990s, when researchers were identifying members of the sodium dependent transporter family in humans and other mammals. From these first observations, research expanded steadily. Early studies focused on cloning the gene, mapping where it sits in the genome, and comparing it with closely related transporter genes to sort out this growing family. As sequencing methods improved in the 2000s, scientists were able to define SLC13A3 more clearly and connect it to broader work on inherited metabolic and kidney related conditions. Its history is mainly a research story rather than a public one, shaped by steady laboratory progress instead of a single breakthrough moment.