The SLC25A24 gene helps move energy-related molecules in and out of mitochondria, the parts of cells that make usable energy. This gene plays an important role in keeping cells stable during growth and stress. If it does not work properly, cells may have trouble managing energy, which can affect development and the shape of the skull, face, skin, and bones. Certain harmful variants in the SLC25A24 gene are linked to Fontaine progeroid syndrome, a rare genetic condition present from birth that can cause an aged appearance and growth differences.
What is a gene?
Genes are sections of DNA that carry instructions your cells use to make molecules or guide processes in the body. Some genes provide the directions for making proteins, the parts of cells that do the work. Others mainly regulate when certain processes happen, where they take place, and how active they are. Taken together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, or medications. To look into this topic more closely, you can read more in the LearnHub.
Overview
SLC25A24Gene function
What if the gene works
The SLC25A24 gene helps move energy carrying molecules and phosphate inside mitochondria, the parts of cells that make energy. This supports normal energy balance and everyday cell function.
Risk
What if the gene does not work
Variants in the SLC25A24 gene can cause a spectrum that ranges from Gorlin-Chaudhry-Moss syndrome to the more severe Fontaine syndrome. Common effects include distinctive facial features, short stature, loose or wrinkled skin, hearing loss, and sometimes heart involvement.
Treatment
What does that mean for your treatment
No treatment or drug choice is currently guided specifically by the SLC25A24 gene in clinical guidelines. Care for people with pathogenic variants in the SLC25A24 gene is based on symptoms and supportive management, not a medicine aimed at this gene.
Conditions associated with SLC25A24
Gene function
What if the gene works
The SLC25A24 gene helps mitochondria, the parts of cells that manage energy, move key molecules across their inner membrane. This steady exchange supports normal cell activity throughout the body. Understanding how the SLC25A24 gene works in mitochondria helps explain how cells match energy handling to daily demands.
The protein made from the SLC25A24 gene moves ATP, one of the cell's main energy molecules, together with magnesium and phosphate across the inner membrane of mitochondria. This helps keep important energy carrying molecules available where cells need them.
This carrier responds to calcium signals inside the cell. That lets mitochondria adjust transport during normal activity, so energy handling can keep pace with changing demand.
By swapping these molecules across the membrane, its carrier protein helps mitochondria maintain a steady internal balance. This supports routine cell work that depends on controlled energy flow.
What is a variant?
A genetic variant is a minor difference in a gene’s DNA sequence. These differences are common and help shape normal human diversity, including variation in appearance, metabolism, and the way the body reacts to environmental influences. Many variants do not cause any noticeable effect and are simply part of natural genetic variation. Sometimes, though, a variant changes how a gene works more significantly and may contribute to or lead to a genetic condition.
Genetic variants
What if the gene does not work
Changes in the SLC25A24 gene can alter the shape and control of a protein in mitochondria, the parts of cells that manage energy. In pathogenic SLC25A24 gene variants, the protein may stay abnormally active or move ATP less normally, which can disturb the inner mitochondrial membrane, cause swelling, and make cells more likely to die. Some variants seem to disrupt this process more than others, and stronger effects are linked to earlier and more marked features in Fontaine progeroid syndrome.
How variants are linked to conditions
Pathogenic variants in the SLC25A24 gene cause Fontaine progeroid syndrome, a very rare condition that affects growth, facial appearance, skin and body fat, and often the eyes, ears, and heart. In some people, SLC25A24 gene variants have also been reported with features historically labeled Gorlin-Chaudhry-Moss syndrome, which is now often considered part of the same condition spectrum. The main well-established association is between the SLC25A24 gene and Fontaine progeroid syndrome.
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 variants do not directly affect health and instead represent normal human diversity. For many genes, carrying a variant associated with a condition suggests 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?
For SLC25A24, risk is mainly tied to having a disease-causing gene change, and these changes usually happen for the first time in a family rather than from lifestyle or environment. There is not enough evidence to say that diet, exercise, or other daily habits lower the chance of developing the condition. Family history can matter in the uncommon situation where a parent carries the variant.
Inheritance of SLC25A24 variants
SLC25A24-related conditions are inherited in an autosomal dominant pattern, which means a change in one copy of the SLC25A24 gene can be enough to cause the condition. If a parent carries a disease-causing variant, each child has a 50% chance of inheriting it. In many reported families, the variant appears as a new (de novo) change in the child rather than being inherited from either parent. This is the main pattern doctors mean when they explain how SLC25A24 variants are inherited.
What does my SLC25A24 result mean for my family?
For SLC25A24, the main known condition is usually passed in a dominant way, so close relatives such as parents, brothers, sisters, and children may also carry the same gene change. In many families, though, the change happens for the first time in one person and is not found in either parent. That means the meaning for relatives depends on whether the result was inherited or started new in the family.
Genetic information
Genetic testing
How you find out about variants
Testing for variants in the SLC25A24 gene is usually done on a blood or saliva sample. SLC25A24 genetic testing reads the gene’s DNA code to look for changes that may help explain a person’s features or confirm a suspected diagnosis. Results are interpreted alongside symptoms and family history.
When should I consider getting a genetic test?
Genetic testing for the SLC25A24 gene may be considered when a baby or child has signs of a rare condition that affects growth, bones, skin, and facial development, especially with eye or heart problems. It can also help clarify a diagnosis when a doctor suspects Fontaine progeroid syndrome or a related condition.
A genetic result is only one part of your health story
Genetic findings can be informative, but how much they reveal depends on the condition and on the specific kind of variant. Over time, the way the body functions is also shaped by many other factors, including lifestyle, environment, age, and medical history. In some conditions, particularly those linked to many genes, genetic information offers context rather than certainty and makes the most sense when considered with the rest of a person’s care. In other situations, a genetic result can give a clear answer. For topics like medication response, genetic results can also help put a person’s experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body handles certain medicines, so the same treatment may work differently from one person to another. Some people break down a drug more slowly or more quickly, which can change how much medicine reaches the body and how long it stays there. This can influence how well a treatment works or how likely side effects are. These differences are common and help explain why medication response is not the same for everyone.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can affect the way a person responds to medications. It looks at connections between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes can influence both how strongly a drug works and how the body handles it. This information can support treatment decisions that are more informed and more individualized. To explore this subject further, you can learn more in the LearnHub.
Drugs influenced by the SLC25A24 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding how medicines are chosen or used, so general medication questions or new symptoms are best discussed with your doctor. Seek medical advice if you have side effects, your treatment is not working as expected, or you are worried about how medicines fit with your overall health.