The VPS35L gene helps cells recycle important proteins so they reach the right place and keep tissues working normally. This gene plays an important role in the body’s internal sorting system, especially during early growth and development. When it does not work properly, proteins can be misplaced, and some people may have a rare inherited condition with developmental delay, low muscle tone, feeding problems, and differences in the brain, heart, or eyes.
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 directions for making proteins, which are the working parts of cells. Other genes mainly control when, where, and how strongly certain processes take place. Together, genes affect how the body develops and functions, and they can influence how you respond to food, stress, or medications. For a more detailed look at this topic, you can find more in the LearnHub.
Overview
VPS35LGene function
What if the gene works
The VPS35L gene helps cells recycle certain proteins from internal compartments back to the cell surface. This supports normal protein sorting, nutrient handling, and cell signaling.
Risk
What if the gene does not work
Variants in the VPS35L gene can cause developmental delay, low muscle tone, and brain, heart, or eye differences. Effects can range from milder to more severe, influencing when features appear and how much support a person may need.
Treatment
What does that mean for your treatment
No treatment or drug choice guideline is currently specific to pathogenic variants in the VPS35L gene. Care is symptom based, and the VPS35L gene is being studied for its role in intracellular protein recycling, but this has not yet led to established targeted therapies.
Conditions associated with VPS35L
Gene function
What if the gene works
Your cells constantly move proteins between the cell surface and small sorting areas inside the cell. The VPS35L gene helps run this internal traffic system so useful cell surface proteins can be recycled and used again. That steady recycling supports everyday tasks such as cell attachment, nutrient handling, and communication between cells.
The VPS35L gene helps build a protein sorting team inside endosomes, the compartments that route used surface proteins. Its protein acts as a scaffold, holding key partners together so selected cargo can be recognized and moved efficiently.
One of its main jobs is endosomal recycling of cell surface proteins. This process returns important proteins to the outer cell membrane, where they can keep supporting cell attachment, nutrient uptake, and cell to cell communication.
By guiding which cargo stays in the recycling route, the VPS35L gene helps cells place proteins in the right location at the right time. This supports steady everyday cell activity across many tissues.
What is a variant?
A genetic variant is a slight difference in the DNA sequence within a gene. These differences are common and are part of normal human diversity, including variation in appearance, metabolism, and the way the body reacts to environmental factors. Many do not produce any noticeable effect and simply represent natural genetic variation. Sometimes, though, a variant changes how a gene works more significantly and can contribute to, or directly cause, a genetic condition.
Genetic variants
What if the gene does not work
Variants in the VPS35L gene usually weaken the cell’s protein recycling machinery, so some proteins are not returned to the cell surface as they should be. Many variants in the VPS35L gene make the protein unstable or abnormally short, which lowers how much working protein the cell can use. More disruptive variants can leave very little activity, while milder variants may preserve some function. This difference in leftover activity helps explain a spectrum of effects from milder to more severe.
How variants are linked to conditions
Pathogenic variants in the VPS35L gene cause Ritscher-Schinzel syndrome type 2, a rare inherited condition. People with this diagnosis may have developmental delay, short stature, low muscle tone, feeding difficulties, changes in brain structure, and heart, eye, or hearing problems. In families affected by VPS35L gene variants and Ritscher-Schinzel syndrome type 2, symptoms can vary from person to person.
A variant is not necessarily a diagnosis
Gene variants are a normal feature of human biology and are common throughout the general population. Most have no direct impact on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when more than one gene and environmental factors are involved. In some instances, though, a single well-characterized variant in a particular gene is 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 risk related to the VPS35L gene. In families with a disease-causing VPS35L change, risk is mainly shaped by the genetic variant itself rather than lifestyle or everyday exposures, and a doctor or genetic counselor can help explain personal risk.
Inheritance of VPS35L variants
VPS35L gene inheritance for the condition linked to this gene is autosomal recessive. This means a child usually inherits one VPS35L gene variant from each parent, and the parents are often healthy carriers with one changed copy and one working copy. When both parents carry a VPS35L gene variant, each pregnancy has a 25% chance of being affected, a 50% chance of producing a carrier child, and a 25% chance of producing a child without the familial variants. Sons and daughters are affected at similar rates.
What does my VPS35L result mean for my family?
For VPS35L, the main family impact is usually for close relatives when a child has inherited a changed copy from each parent. Brothers and sisters may also be affected or may be healthy carriers, and parents are often carriers without having symptoms. Other relatives may also carry a VPS35L change, so this result can matter for family planning and for understanding risk in the wider family.
Genetic information
Genetic testing
How you find out about variants
VPS35L variants are found with genetic testing, usually from a blood sample or saliva sample. A lab reads the DNA sequence to look for changes in the VPS35L gene, often as part of a multigene panel or exome test, so genetic testing for VPS35L variants can help clarify whether an inherited condition is present.
When should I consider getting a genetic test?
Genetic testing for VPS35L may be considered if a child has unexplained developmental delay, low muscle tone, feeding problems, balance problems, eye findings, or birth differences such as heart or facial differences, especially when several occur together. It may also help when there is a family history of a similar condition.
A genetic result is only one part of your health story
Genetic results can provide useful insight, yet how much they reveal varies with the condition and the specific type of variant. Many factors, including lifestyle, environment, age, and medical history, shape how the body works over time. For some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is best understood alongside other parts of care. In other situations, a genetic result may offer a clear answer. In areas like medication response, genetic results can 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, broken down, moved through the body, or how strongly it acts at its target. This helps explain why the same medication may work well for one person, have little effect in another, or cause more side effects in someone else. These differences are common and are one reason treatment response can vary from person to person.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can shape the way a person responds to medication. It studies the relationship between genes and medicines to help explain why the same treatment can work differently from one person to another. For many drugs, genes can influence how strongly a medicine acts or how the body processes it. This understanding can support treatment decisions that are more informed and more individualized. To explore this subject in greater detail, more information is available in the LearnHub.
Drugs influenced by the VPS35L gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in medication response. If you have new side effects, poor symptom control, or questions about any medicine, talk with your doctor or pharmacist.