The SLC16A8 gene helps cells in the back of the eye move lactate, a normal byproduct of energy use, so the retina stays balanced and healthy. If this gene does not work well, these cells may have more trouble clearing waste, which can strain the macula, the part of the retina needed for sharp central vision. Some variants in the SLC16A8 gene are linked to a higher chance of age-related macular degeneration.
What is a gene?
Genes are sections of DNA that give your cells instructions they can use to make molecules or regulate processes in the body. Some genes carry the directions for producing proteins, the parts of cells that do much of the work. Other genes mainly control when certain processes happen, where they happen, and how strongly they occur. Together, genes affect how the body develops and functions, and they can also influence how you respond to food, stress, or medications. For a deeper look at this topic, you can find more information in the LearnHub.
Overview
SLC16A8Gene function
What if the gene works
The SLC16A8 gene helps retinal support cells move lactate, a normal energy byproduct. This supports the retina’s energy balance and the chemical conditions needed for clear, steady vision.
Risk
What if the gene does not work
Milder to more severe variants in the SLC16A8 gene can reduce or disrupt the MCT3 transporter in retinal support cells. This may impair lactate movement across these cells and disturb the chemical balance needed for normal retinal metabolism.
Treatment
What does that mean for your treatment
No SLC16A8-specific treatment or management approach is currently established for people with a pathogenic variant in the SLC16A8 gene. The SLC16A8 gene is being studied in retinal disease research, including age-related macular degeneration, as a possible marker and therapeutic target.
Gene function
What if the gene works
Good vision depends on a steady chemical balance in the back of the eye. In your body, the SLC16A8 gene supports processes that move lactate, a normal byproduct of energy use, out of key eye support cells. This helps the retina stay in a stable environment while it handles the constant work of seeing.
The SLC16A8 gene makes a transporter protein in retinal support cells at the back of the eye. It moves lactate, along with a hydrogen ion, across the cell membrane.
By clearing lactate from the retinal pigment epithelium, this gene helps keep the local chemical environment steady. That supports normal lactate transport in the retina during everyday energy use.
Because its transporter moves lactate together with hydrogen, it also helps regulate local acidity levels. This supports the controlled setting that nearby light sensing cells need for routine visual function.
What is a variant?
A genetic variant is a minor difference in the DNA sequence within a gene. These differences are common and help explain normal variation among people, such as appearance, metabolism, or the way the body responds to environmental influences. Many have no noticeable effect and simply represent natural genetic variation. Sometimes, though, a variant changes how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
How variants influence the SLC16A8 gene's function often comes down to how much they reduce the MCT3 transporter's ability to reach the cell surface or move lactate across it. Some variants may slightly alter the protein's shape and lower transport activity, while more severe variants can make it unstable, misfolded, or trapped inside the cell. This creates a spectrum from partial loss of function to little or no effective transporter.
How variants are linked to conditions
Variants in the SLC16A8 gene have been linked most consistently to age-related macular degeneration, a common eye condition that can affect central vision later in life. In studies on the SLC16A8 gene and age-related macular degeneration, the reported effects usually reflect a change in risk rather than a diagnosis on their own. Many people with a risk-linked variant never develop macular degeneration, and many people with the condition do not carry these variants.
A variant is not necessarily a diagnosis
Genetic variants are common across the general population and are a normal feature of human biology. Most do not directly affect health and simply contribute to natural human diversity. In many genes, having a variant associated with a condition points to a possible link rather than a definite diagnosis, particularly when more than one gene and environmental factors play a role. In other situations, though, one well-characterized variant in a particular gene may be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
Changes in the SLC16A8 gene have been linked with age-related macular degeneration, but there is not yet broadly confirmed evidence on specific factors that change risk in people with this gene change. Overall risk for this eye condition is also shaped by age, smoking, and other genes, so a doctor or genetic counselor can help put one gene result in context.
Inheritance of SLC16A8 variants
There is not yet a broadly confirmed Mendelian inheritance pattern tied to a specific SLC16A8-related condition. Most attention to the SLC16A8 gene has focused on common variants that may influence the chance of age-related macular degeneration, so the SLC16A8 inheritance pattern is not described in the same way as a classic dominant or recessive condition. The SLC16A8 gene is located on chromosome 22, which is an autosome, so you inherit one copy from each parent.
What does my SLC16A8 result mean for my family?
There isn't yet a broadly confirmed inheritance pattern tied to a specific condition for the SLC16A8 gene, though this can change as research develops. If you have a specific SLC16A8 result and want to understand what it could mean for close relatives, a doctor or genetic counselor can help put it in context for your family.
Genetic information
Genetic testing
How you find out about variants
Variants in the SLC16A8 gene are found with genetic testing for SLC16A8 variants, usually using a blood or saliva sample. A lab reads the DNA sequence and compares it with the usual sequence to see whether a variant is present, and the report may classify it as benign, uncertain, or likely disease related.
When should I consider getting a genetic test?
There is not yet a broadly established, SLC16A8-specific clinical reason for genetic testing. Decisions about testing are best made with a doctor or genetic counselor, based on your eye health, symptoms, and family history.
A genetic result is only one part of your health story
Genetic test results can provide useful insight, but how much they reveal depends on the condition and on the type of variant involved. Over time, how the body works is shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, especially those affected by many genes, genetic information offers context rather than certainty and is best understood together with other parts of care. In other situations, a genetic result may give 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 your body responds to medicines. Small differences in genes can change how a drug is absorbed, moved through the body, or broken down, so the same treatment may work better for one person than another. These differences are common and can influence how much benefit someone gets from a medicine or how sensitive they are to side effects. Genetics is one part of the picture, along with age, other health conditions, and other medicines.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genes affect the way people respond to medicines. It studies gene and medication patterns to help explain why the same treatment can work differently from one person to another. With many medicines, genes can influence how the body handles a drug or how strong its effects are. This information can support more informed, personalized treatment choices. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the SLC16A8 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 prescriptions, or treatment changes are best discussed with your doctor.