The SLC25A36 gene helps move small building blocks for DNA and RNA into mitochondria, the parts of cells that make energy. This gene plays an important role in keeping mitochondrial DNA healthy and supporting normal cell function. If both copies do not work properly, cells may struggle to make energy and maintain their mitochondria, which can lead to a rare inherited mitochondrial condition. Unlike a few high profile genes, the SLC25A36 gene is mostly discussed in specialist medical genetics.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or directing activities in the body. Some genes hold the information needed to make proteins, the parts of cells that do 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 works, and they can influence how you respond to food, stress, and medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
SLC25A36Gene function
What if the gene works
The SLC25A36 gene helps move certain building blocks into mitochondria, the parts of cells that make energy. This supports mitochondrial DNA and RNA and helps cells make energy and function normally.
Risk
What if the gene does not work
Milder to more severe variants in the SLC25A36 gene can reduce mitochondrial transport of cytidine and uridine building blocks to different degrees, which may disrupt mitochondrial DNA and RNA maintenance and lower cellular energy production.
Treatment
What does that mean for your treatment
No treatment or routine drug selection strategy is currently established specifically for pathogenic variants in the SLC25A36 gene. Early research is exploring whether pyrimidine replacement, such as uridine, might help some rare SLC25A36-related conditions.
Gene function
What if the gene works
Your cells need a steady supply of building blocks inside mitochondria, the parts that help make energy. The SLC25A36 gene’s function is to help move specific DNA and RNA building blocks into mitochondria. This supports the normal upkeep of mitochondrial genetic material and the steady work of energy production.
The SLC25A36 gene helps move specific DNA and RNA building blocks into mitochondria, the parts of cells that help make energy. This gives mitochondria a ready supply of materials for routine cell work.
These imported building blocks help mitochondria copy and maintain their own DNA. That supports the genetic instructions mitochondria use for normal day to day function.
Mitochondria also use these building blocks to make RNA, a working copy of genetic instructions used to build key proteins. This helps support steady energy production across many tissues.
What is a variant?
A genetic variant is a slight difference in a gene’s DNA sequence. These differences are common and are part of normal human diversity, including variation in appearance, metabolism, and how the body responds to environmental influences. Many have no noticeable effect and simply represent natural genetic variation. In some situations, however, a variant can affect how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
At a cellular level, SLC25A36 gene variants affect function by weakening the transporter protein or making it unstable, so mitochondria take up fewer pyrimidine building blocks. Milder variants may leave some transport activity, while more severe variants can cause little or no function. This can impair mitochondrial DNA upkeep and lower energy production, and the most disruptive variants are often linked to earlier or more pronounced symptoms.
How variants are linked to conditions
The health conditions linked to SLC25A36 gene variants are still being defined. The SLC25A36 gene does not yet have a broadly confirmed link to a specific health condition, though this can change as research develops, and anyone with a confirmed SLC25A36-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 usual part of human biology, and they are common across the general population. Most do not have a direct effect on health. They are simply part of normal human diversity. For many genes, having a variant associated with a condition suggests a possible link rather than a certain diagnosis, especially when several genes and environmental factors also play a role. In some situations, though, one well-characterized 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 risk related to the SLC25A36 gene. People with concerns about their personal or family risk can talk with a doctor or genetic counselor for guidance based on their health history.
Inheritance of SLC25A36 variants
For families learning how SLC25A36 gene variants are inherited, the reported SLC25A36-related condition follows an autosomal recessive pattern. This means a person must inherit two altered copies of the SLC25A36 gene, one from each parent, to have the condition. Parents who each carry one variant usually do not have symptoms. With each pregnancy, two carrier parents 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 two typical copies.
What does my SLC25A36 result mean for my family?
For families with an SLC25A36-related condition, the pattern is inherited in a recessive way. This usually means parents are healthy carriers, and brothers, sisters, and future children could also be carriers or, in some cases, be affected. Close relatives may want to learn whether the same gene change runs in the family.
Genetic information
Genetic testing
How you find out about variants
SLC25A36 genetic testing looks for DNA changes using blood, saliva, or a cheek swab. A lab reads the SLC25A36 gene to see whether a variant is present. Results may show a harmful variant, a harmless variant, or a variant of uncertain significance (a change whose meaning is still unclear).
When should I consider getting a genetic test?
There is not yet a broadly established reason for SLC25A36 testing in routine care. It may come up if a doctor is looking into a rare inherited mitochondrial condition or if a family member has a known SLC25A36 variant, and the decision is usually based on personal and family history.
A genetic result is only one part of your health story
A genetic finding can provide useful insight, but how much it reveals depends on the condition and the kind of variant involved. Factors like lifestyle, environment, age, and medical history also shape how the body functions over time. 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 give a clear answer. In areas like medication response, it can also help place personal experiences in context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can influence how your body responds to medicines. Small differences in DNA can affect how a drug is absorbed, broken down, moved through the body, or how strongly it acts at its target. That helps explain why the same medication may work well for one person, do very little for another, or cause more side effects in someone else. These differences are common and are one part of the bigger picture, along with age, kidney and liver function, other medicines, and overall health.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genes can affect a person’s response to medications. It studies connections between genes and drugs to better explain why treatments 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. You can read more about this topic in the LearnHub.
Drugs influenced by the SLC25A36 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choice or dose, so any concerns about symptoms, side effects, or how a medicine is working are best discussed with your doctor or pharmacist.