The ABHD16A gene helps control certain fats that nerve cells use to build membranes and send signals. This gene plays an important role in keeping these fats balanced, especially in the brain. When both copies of the ABHD16A gene do not work properly, it can cause a rare inherited condition with developmental delay, muscle stiffness and weakness in the legs, and problems with movement or speech.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or regulate processes in the body. Some genes hold the information needed to produce proteins, the active parts of cells. Others mainly guide when certain processes happen, where they take place, and how strongly they run. Together, genes affect how the body develops and works, and they can also influence 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
ABHD16AGene function
What if the gene works
The ABHD16A gene helps cells convert certain membrane fats into signaling fats. This supports communication between cells, especially in the brain and immune system.
Risk
What if the gene does not work
Biallelic variants in the ABHD16A gene can cause a rare neurodevelopmental condition with developmental delay, intellectual disability, and movement problems such as spasticity or ataxia. Effects can range from milder to more severe, affecting when symptoms begin.
Treatment
What does that mean for your treatment
No ABHD16A-specific treatment or drug choice is currently established, so care is guided by symptoms rather than the ABHD16A gene itself. The ABHD16A pathway is being studied in early research, but this has not yet changed routine treatment.
Conditions associated with ABHD16A
Gene function
What if the gene works
Inside your cells, the ABHD16A gene helps manage a small group of membrane fats. Its protein changes one fat, phosphatidylserine, into another, lysophosphatidylserine, that cells can use in everyday signaling. This helps explain what the ABHD16A gene does in the body at a basic level.
The ABHD16A gene helps cells convert phosphatidylserine, a common membrane fat, into lysophosphatidylserine. This is a core step in how your body handles these lipids during normal cell activity.
By reshaping membrane fats, this gene supports normal lipid turnover, meaning old and newly made fats can be balanced over time. That steady recycling helps cell membranes stay suited to everyday tasks.
The lysophosphatidylserine made through ABHD16A can act as a signaling fat that influences how cells communicate. This is part of routine signaling in the body, including pathways used by immune cells.
What is a variant?
A genetic variant is a minor change in the DNA sequence of a gene. These changes are common and help create normal human diversity, including differences in appearance, metabolism, or how the body responds to environmental influences. Many have no noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can change how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
ABHD16A gene variants can change how much stable protein a cell makes and how well that protein breaks down certain membrane fats. Milder variants may leave partial enzyme activity, while more severe variants can sharply reduce activity or stop the protein from being produced at all. This can upset the balance of related fats inside cells, especially nerve cells, and in ABHD16A-related neurologic disease it may influence how early and how broadly features appear.
How variants are linked to conditions
ABHD16A does not yet have a broadly confirmed link to a specific health condition, although research on how ABHD16A variants are linked to conditions is still developing. If you carry a variant in the ABHD16A gene and have a confirmed diagnosis, your doctor or genetic counselor can explain what that result may mean for you and your family.
A variant is not necessarily a diagnosis
Genetic variants are common and are a normal feature of human biology. Most do not directly affect health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition suggests a possible link rather than a certain diagnosis, especially when multiple genes and environmental factors also play a role. In some situations, though, a single well-characterized variant in a specific gene can be 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 risks related to the ABHD16A gene. If a change in ABHD16A has been found in you or your family, a doctor or genetic counselor can help explain what it may mean for your personal risk.
Inheritance of ABHD16A variants
ABHD16A-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 ABHD16A 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. For families asking how ABHD16A gene variants are inherited, sons and daughters are affected equally because this gene is on an autosome.
What does my ABHD16A result mean for my family?
For families with a disease-causing ABHD16A result linked to the known ABHD16A-related condition, it is understood as a recessive condition, which usually means parents are healthy carriers and brothers or sisters could also be affected or be carriers. Other close relatives may also carry the same gene change, especially on the same side of the family. Family members may wish to discuss whether testing would be useful for them, particularly when planning a pregnancy.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a change in the ABHD16A gene, a lab can analyze DNA from a blood sample, saliva sample, or cheek swab. ABHD16A genetic testing looks for variants by reading the gene's DNA sequence and comparing it with the reference sequence. Results may show a benign variant, a variant of uncertain significance, or a pathogenic variant.
When should I consider getting a genetic test?
Consider testing for the ABHD16A gene when there are unexplained early-onset movement problems, leg stiffness, developmental delay, or similar symptoms in close relatives. Testing may help clarify the cause, especially when more than one family member is affected or when symptoms suggest a rare inherited nerve or brain condition.
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 the specific type of variant. The way the body functions over time is also shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best considered alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas like 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. Two people can take the same treatment, yet one may get a better effect while another may notice less benefit or be more sensitive to side effects, because their bodies absorb, break down, or handle the drug differently. This kind of difference is common and is one reason medication response is not always the same from one person to another.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences shape the way people respond to medications. It focuses on the relationship between genes and drugs to help explain why the same treatment can work differently from one person to another. For many medicines, genes affect either how strongly a drug works or how the body processes it. This understanding can support treatment decisions that are both better informed and more individualized. To explore this subject further, you can learn more in the LearnHub.
Drugs influenced by the ABHD16A gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication response, so general questions about medicines are best discussed with your doctor. If a treatment causes side effects or does not seem to be helping, your doctor can look at the full picture, including other health conditions and any other medicines you take.