SLC39A14 helps move manganese, zinc, and iron into cells, especially in the liver, helping the body keep metal levels balanced. This gene plays an important role in controlling manganese so it does not build up. If the SLC39A14 gene does not work properly, too much manganese can collect in the blood and brain and lead to early movement problems, muscle stiffness, trouble speaking, and developmental delay. This condition is rare but can improve when it is recognized early.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or directing processes in the body. Some genes carry the code for proteins, which are the parts of cells that do much of the work. Other genes mainly regulate when certain processes happen, where they take place, and how strongly they operate. Taken together, genes influence how the body develops and works, and they can affect how you respond to food, stress, or medications. If you want to look into this topic more closely, you can find more in the LearnHub.
Overview
SLC39A14Gene function
What if the gene works
The SLC39A14 gene helps move manganese, zinc, and iron into cells. It is especially important in the liver, where it helps clear manganese from the blood and keep levels balanced for normal brain and body function.
Risk
What if the gene does not work
When the SLC39A14 gene does not work properly, manganese can build up in the brain, causing movement problems in childhood, often with dystonia, parkinsonism, and developmental delay. Milder or more severe variants can affect when symptoms begin and how pronounced they are.
Treatment
What does that mean for your treatment
Pathogenic loss-of-function variants in the SLC39A14 gene support management aimed at lowering manganese, usually with intravenous calcium disodium EDTA. Oral iron may also be used in some people because it can reduce manganese uptake. Earlier treatment tends to offer more benefit, and deep brain stimulation may help selected people with persistent movement symptoms.
Conditions associated with SLC39A14
Gene function
What if the gene works
The SLC39A14 gene helps move certain minerals, especially manganese, from the bloodstream into cells. This transport is important in the liver and other tissues, where cells use these minerals for routine work. This helps explain what the SLC39A14 gene does in the body each day.
The SLC39A14 gene makes a transporter protein on the cell surface that brings manganese into cells. It can also move zinc and iron, helping cells take in small but important amounts of these minerals.
One of its main roles is to help liver cells pull manganese out of the blood. This supports normal manganese balance across the body and helps prepare extra manganese for release into bile.
By supplying manganese to cells, this gene helps enzymes (proteins that carry out chemical jobs) work as expected. These enzymes support daily processes such as energy use, cell protection, and normal growth.
What is a variant?
A genetic variant is a minor change in a gene’s DNA sequence. These changes are common and help shape normal human diversity, including differences in appearance, metabolism, and how the body responds to environmental influences. Many variants have no noticeable effect and are simply part of natural genetic variation. In some cases, though, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the SLC39A14 gene can change the transporter’s shape, reduce its stability, or keep it from reaching the cell surface, so cells handle manganese less effectively. This helps explain how SLC39A14 gene variants affect manganese transport. Some changes leave partial activity, while more disruptive variants can lead to little or no transport, which can influence how strongly manganese builds up and, in established SLC39A14-related disease, how early and severe movement symptoms may be.
How variants are linked to conditions
Pathogenic variants in the SLC39A14 gene cause a rare inherited condition called hypermanganesemia with dystonia 2, often described as SLC39A14-related childhood-onset dystonia or parkinsonism-dystonia. Children may develop stiffness, unusual muscle twisting, slowed movement, trouble walking, and sometimes speech or swallowing problems. Finding disease-causing variants in both copies of the SLC39A14 gene can confirm the diagnosis.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are widespread in the general population. Most do not have a direct effect on health and simply contribute to natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when multiple genes and environmental factors are involved. In some cases, 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 SLC39A14, risk is mainly shaped by inheritance: the condition usually happens when a child inherits harmful changes in both copies of the gene, so having carrier parents or an affected sibling raises the chance. There is limited evidence that lifestyle changes alter whether the condition develops, but early diagnosis and avoiding extra manganese exposure may help reduce complications.
Inheritance of SLC39A14 variants
For families asking about the SLC39A14 inheritance pattern, SLC39A14-related disease is inherited in an autosomal recessive way. This means a child usually needs to inherit two altered copies of the SLC39A14 gene, one from each parent, to have the condition. Parents who each carry one altered copy are usually unaffected carriers. With each pregnancy, two carrier parents have a 25% chance of having an affected child, a 50% chance of having a carrier child, and a 25% chance of having a child who did not inherit either altered copy.
What does my SLC39A14 result mean for my family?
For families with a disease-causing change in the SLC39A14 gene, the condition is inherited in a recessive pattern. This usually means parents are healthy carriers, and brothers and sisters may also be affected or may be carriers even if they feel well. Close relatives may also carry the same gene change, so the result can matter for family planning and for understanding risks in the wider family.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for SLC39A14 variants usually uses a blood or saliva sample, then a lab reads the DNA code to look for changes in the SLC39A14 gene. Results can show whether a variant is present and whether it is known to explain a person’s symptoms.
When should I consider getting a genetic test?
Genetic testing for the SLC39A14 gene may be worth considering when a child has unexplained movement problems, muscle stiffness, loss of skills, or very high manganese levels in blood. It can also help when this condition runs in the family or brain scans suggest manganese buildup.
A genetic result is only one part of your health story
A genetic result can provide valuable insight, but how much it reveals depends on the condition and the specific type of variant involved. Lifestyle, environment, age, and medical history are among the many factors that shape how the body functions over time. In some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is most useful when viewed alongside other parts of care. In other situations, a genetic result can offer a clear answer. In areas such as medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same treatment works well for one person, has less effect in another, or causes more side effects in someone else. Small differences in genes can change how the body absorbs, breaks down, transports, or responds to a drug. These differences are common and can influence both how well a medicine works and how sensitive a person may be to it.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic variation can shape a person’s response to medications. By looking at connections between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medicines, genes affect either how strongly a drug works or how the body handles it. This information can support treatment decisions that are both more informed and more individualized. More detail on this topic is available in the LearnHub.
Drugs influenced by the SLC39A14 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choices, so questions about side effects, treatment changes, or supplements are best discussed with your doctor. SLC39A14 has mainly been studied for how the body handles manganese, not as a routine guide for prescribing medicines.
History
In recent decades, awareness of the SLC39A14 gene’s role has grown. It was identified during efforts to map a family of metal transport genes, first described as part of the ZIP group that helps move zinc and other metals into cells. Building on this early work, scientists later showed that SLC39A14 is especially important for handling manganese, which shifted research beyond zinc alone. A major milestone came in the mid 2010s, when inherited variants in the SLC39A14 gene were linked to a childhood movement condition caused by manganese buildup. These findings helped connect laboratory research with real patient care and made SLC39A14 an important gene in rare neurologic diagnosis.