The VPS13A gene helps move fats between parts of cells, which is especially important for nerve cells and red blood cells. This gene plays an important role in keeping these cells working smoothly. If the VPS13A gene does not work properly, cells can become less stable and less able to do their usual jobs. Inheriting two nonworking variants can cause chorea-acanthocytosis, a rare inherited condition that may lead to involuntary movements, muscle weakness, trouble speaking or swallowing, and red blood cells with an unusual spiky shape.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or regulate activities in the body. Some genes provide the directions for building proteins, which do much of the work inside cells. Others mainly control when certain processes happen, where they happen, and how active they are. Together, genes affect how the body develops and works, and they can influence how you respond to food, stress, and medications. To explore this topic in more detail, you can learn more in the LearnHub.
Overview
VPS13AGene function
What if the gene works
The VPS13A gene helps move fats between cell membranes. This supports membrane upkeep and normal cell function, especially in nerve cells and red blood cells.
Risk
What if the gene does not work
Pathogenic variants affecting both copies of the VPS13A gene can cause chorea-acanthocytosis, with movement, muscle, thinking, and behavior changes; some people also have seizures or abnormal red blood cells. Milder and more severe variants can influence timing and features.
Treatment
What does that mean for your treatment
No treatment or drug choice strategy specific to pathogenic variants in the VPS13A gene is currently established in clinical guidelines. Care is guided by symptoms rather than the VPS13A variant itself, while early research is exploring ways to restore VPS13A function and related cell pathways.
Gene function
What if the gene works
Many cells depend on smooth movement of fats to keep their outer layers and internal compartments in good shape. The VPS13A gene supports this steady traffic, especially in cells with high energy needs such as nerve and muscle cells. Understanding what the VPS13A gene does in cells helps explain how they stay organized and keep daily housekeeping on track.
The VPS13A gene helps move fats between nearby cell membranes. This gives cells the material they need to build, shape, and refresh those membranes.
Its protein works at spots where two cell compartments sit very close together. This helps membranes share material efficiently while each compartment keeps its own contents controlled.
By supporting membrane flow, this gene helps cells keep their internal layout organized. It also supports routine housekeeping, including recycling and renewal of cell parts.
VPS13A helps maintain membrane links involving the parts of cells that make energy. This supports steady function in cells that need a reliable energy supply, such as nerve and muscle cells.
What is a variant?
A genetic variant is a minor difference in the DNA sequence of a gene. These differences are common and help shape normal human diversity, including variations in appearance, metabolism, and how the body responds to environmental influences. Many have no noticeable effect and are simply part of natural genetic variation. In some cases, however, 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
In explaining how VPS13A gene variants affect protein function, many pathogenic changes stop the chorein protein from being made or leave it shortened and unstable, so cells cannot handle certain membrane fats normally. Some variants allow a small amount of working protein, while more disruptive variants leave little or none. This difference in residual activity can influence how early VPS13A disease appears and how marked its features become.
How variants are linked to conditions
Pathogenic variants in the VPS13A gene cause chorea-acanthocytosis, also called VPS13A disease. This rare inherited condition is linked to involuntary movements, muscle spasms, seizures, nerve problems, and changes in mood, behavior, or thinking. A VPS13A gene variant linked to chorea-acanthocytosis usually confirms the diagnosis when disease-causing variants are found in both copies of the gene.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are common across the general population. Most do not have a direct effect on health and simply reflect natural 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 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?
For VPS13A, the main factor that changes risk is inheritance: people who inherit disease-causing changes in both copies of the VPS13A gene can develop this condition, while carriers with one changed copy usually do not. There is not broadly confirmed evidence that lifestyle or environmental factors meaningfully raise or lower this genetic risk.
Inheritance of VPS13A variants
VPS13A-related conditions follow an autosomal recessive inheritance pattern. This means a person usually inherits one VPS13A gene variant from each parent, and parents who carry one variant typically do not have the condition themselves. When both parents are carriers, each pregnancy has a 25% chance that the child will inherit both altered copies, a 50% chance that the child will be a carrier, and a 25% chance that the child will inherit neither variant. In practical terms, the VPS13A inheritance pattern affects males and females equally, and either parent can pass the variant to a son or daughter.
What does my VPS13A result mean for my family?
For families affected by changes in the VPS13A gene, close relatives may also carry the same gene change. Brothers and sisters may be affected or may be carriers even if they have no symptoms, and parents are often carriers. Children of someone with VPS13A-related disease usually carry one changed copy, and the chance of having an affected child depends on whether the other parent also carries a VPS13A change.
Genetic information
Genetic testing
How you find out about variants
Finding out about VPS13A variants usually involves VPS13A genetic testing on a blood sample, and sometimes saliva. A lab reads the VPS13A gene to look for variants and classifies them based on medical evidence. A pathogenic variant can confirm a VPS13A-related genetic diagnosis.
When should I consider getting a genetic test?
Consider testing for the VPS13A gene if you or a close relative has signs of a rare inherited nerve and movement condition, especially involuntary movements, seizures, muscle weakness, or repeated lip and tongue biting. Testing can help confirm whether VPS13A-related disease is the cause and clarify family risk.
A genetic result is only one part of your health story
A genetic result can provide valuable insight, but how much it explains depends on the condition and on the type of variant involved. Over time, many factors, including lifestyle, environment, age, and medical history, influence how the body functions. For some conditions, especially those shaped by many genes, genetic information provides context rather than certainty and is most helpful when viewed alongside 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 make sense of individual experiences.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can influence how your body responds to medicines, including how a drug is broken down, moved through the body, or acts on its target. This helps explain why the same treatment may work well for one person, cause more side effects in another, or seem to have less effect in someone else. These differences are common and are one part of why medication response can vary from person to person.
What is Pharmacogenetics?
Pharmacogenetics is the area of medicine that examines how genetic differences affect the way people respond to medications. It focuses on patterns between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes influence how strongly a drug works or how the body processes it. This understanding can support more informed, more individualized treatment decisions. If you want to explore this topic in greater detail, you can learn more in the LearnHub.
Drugs influenced by the VPS13A gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication response, so questions about symptoms, treatment choices, or side effects are best discussed with your doctor.
History
The VPS13A gene entered medical genetics through studies of a rare inherited movement condition once called choreoacanthocytosis, now more often referred to as VPS13A disease. In the late 1990s and early 2000s, researchers traced the condition to chromosome 9 and then identified changes in the VPS13A gene as the cause in affected families. Initially understood only through visible traits, later recognized as tied to a specific gene, this shift helped separate VPS13A disease from other conditions with similar involuntary movements. From these first observations, research expanded steadily. Scientists also connected the older name CHAC to the same gene before VPS13A became the standard name in the literature. This history gave families and clinicians a clearer path to genetic diagnosis and more consistent disease classification.