The ASPSCR1 gene helps cells move a key sugar transporter to the cell surface, which supports normal blood sugar control. If the ASPSCR1 gene does not work normally, cells may handle glucose less effectively, and rare rearrangements involving this gene can contribute to cancer. This gene plays an important role in the uncommon cancer alveolar soft part sarcoma, where part of the ASPSCR1 gene becomes joined to another gene called TFE3.
What is a gene?
Genes are stretches of DNA that give cells instructions for making molecules or directing processes in the body. Some genes hold the directions for producing proteins, the parts of cells that do the work. Others mainly regulate when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body develops and functions, and they can also influence your response to food, stress, or medications. For a closer look at this subject, you can learn more in the LearnHub.
Overview
ASPSCR1Gene function
What if the gene works
The ASPSCR1 gene helps cells move GLUT4, a protein that lets sugar enter cells, when insulin signals. This supports glucose uptake in fat and muscle tissue and helps the body manage blood sugar.
Risk
What if the gene does not work
When the ASPSCR1 gene is altered, the best-known effect is the ASPSCR1-TFE3 fusion, linked to alveolar soft part sarcoma and some kidney cancers. Milder or more disruptive DNA changes can affect how strongly cell growth is disturbed.
Treatment
What does that mean for your treatment
A pathogenic or loss-of-function variant in the ASPSCR1 gene does not currently change standard treatment or drug choices in a guideline-based way. In research, the ASPSCR1-TFE3 fusion is used as a biomarker in alveolar soft part sarcoma and is helping guide studies of targeted drugs and immunotherapy.
Conditions associated with ASPSCR1
Gene function
What if the gene works
Your muscle and fat cells use the ASPSCR1 gene to manage how they handle sugar from the bloodstream. Understanding what the ASPSCR1 gene does in cells helps explain how insulin signaling stays coordinated. Its main job is guiding the storage and movement of GLUT4, a key sugar transporter.
In fat and muscle cells, the ASPSCR1 gene helps keep GLUT4, a protein that moves sugar into cells, in an internal storage pool. This keeps glucose uptake controlled until insulin signals that more sugar is needed.
After an insulin signal, the ASPSCR1 gene helps stored GLUT4 carriers get released and sent toward the cell surface. This allows more GLUT4 to reach the membrane, where it can bring glucose from the blood into the cell.
Its protein helps organize vesicle traffic, the movement of small membrane packages inside cells. By guiding this routine transport, it supports orderly delivery of proteins to the places where they are needed.
What is a variant?
A genetic variant is a minor change in the DNA sequence within 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 variants do not have any noticeable effect and simply represent natural genetic variation. Sometimes, though, a variant can have a larger effect on how a gene functions and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Changes in the ASPSCR1 gene can weaken how its protein folds, how stable it is, or how well it binds proteins inside the cell. Milder ASPSCR1 gene variants may only partly reduce protein movement and interactions, while more disruptive variants can have a larger functional effect. In some tumors, an ASPSCR1-TFE3 fusion variant (two genes joined together) creates an abnormal protein that switches on genes in the wrong way, a well-known example of how ASPSCR1 gene variants affect cells.
How variants are linked to conditions
Changes involving the ASPSCR1 gene are most clearly linked to alveolar soft part sarcoma, making the ASPSCR1 gene and alveolar soft part sarcoma connection the best established association. In most cases, this involves a gene fusion called ASPSCR1-TFE3 found in the tumor rather than an inherited family variant. The same fusion is also associated with a smaller group of kidney cancers called Xp11 translocation renal cell carcinoma. These findings mainly help classify an existing cancer.
A variant is not necessarily a diagnosis
Genetic variants are a usual feature of human biology and are found throughout the general population. Most do not directly affect health and simply reflect normal human diversity. For many genes, having a variant associated with a condition points to a possible link, not a firm diagnosis, particularly when several genes and environmental influences play a role. In certain situations, though, one 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 ASPSCR1. Most concerns linked to ASPSCR1 involve rare gene changes in tumors rather than inherited risk, so personal risk is not usually changed in a clear, predictable way by lifestyle or family history alone.
Inheritance of ASPSCR1 variants
There is not yet a broadly confirmed, disease-associated Mendelian pattern for how ASPSCR1 gene variants are inherited, so the inheritance of ASPSCR1 gene variants is not described in the same clear way as classic dominant or recessive conditions. The ASPSCR1 gene is located on chromosome 17, which is an autosome, so each person inherits one copy from each parent. In practical terms, any inherited ASPSCR1 change would follow ordinary autosomal transmission within a family, but no single well-established family pattern is currently used for ASPSCR1-related disease.
What does my ASPSCR1 result mean for my family?
There is not yet a broadly confirmed inherited pattern for ASPSCR1 tied to a specific inherited condition in families. In most situations, changes involving ASPSCR1 are discussed in the setting of a tumor change rather than something clearly passed down from parent to child, so the meaning for relatives depends on the exact result.
Genetic information
Genetic testing
How you find out about variants
To find out about variants in the ASPSCR1 gene, genetic testing reads DNA from a blood or saliva sample, and sometimes from a tissue sample, to look for spelling changes or gene rearrangements. This is how genetic testing works for ASPSCR1: a lab analyzes the gene and reports whether a relevant variant was found.
When should I consider getting a genetic test?
There is not a broadly established reason for inherited ASPSCR1 testing based on family history alone. A doctor may consider testing a tumor for an ASPSCR1-TFE3 gene fusion, a joined-up gene change, when a rare soft tissue cancer such as alveolar soft part sarcoma is suspected.
A genetic result is only one part of your health story
Genetic results can provide useful insight, but how much they reveal varies with the condition and the kind of variant involved. How the body functions over time is also shaped by many factors, including lifestyle, environment, age, and medical history. In some conditions, especially ones influenced by many genes, genetic information offers context rather than certainty and is most useful when considered together with other parts of care. In other situations, a genetic result can give a clear answer. In areas like medication response, genetic results may also help place personal experiences in context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body breaks down a drug, moves it through the body, or responds at the drug’s target. This is common and can help explain why the same treatment works well for one person, works less well for another, or causes more side effects in someone who is more sensitive to it.
What is Pharmacogenetics?
Pharmacogenetics examines how inherited genetic differences can affect the way people respond to medications. By studying links between genes and drugs, it helps explain why the same treatment may work differently in different people. For many medicines, genes can influence how the body handles a drug or how strong its effects are. This information can support more informed, more personalized treatment choices. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the ASPSCR1 gene
When should I seek medical advice?
There isn't yet a broadly confirmed role for this gene in guiding medication response, so questions about side effects, treatment changes, or how well a medicine is working are best discussed with your doctor. Seek medical advice promptly if symptoms are severe, new, or getting worse after starting a treatment.
History
ASPSCR1 entered the medical literature through research on a very rare cancer called alveolar soft part sarcoma. In the 1990s and early 2000s, researchers studying tumor cells found a recurring chromosome swap that pointed to this gene. Building on this early work, scientists uncovered more about the gene when they showed that ASPSCR1 can join with the TFE3 gene in these tumors. That finding helped clarify why this sarcoma looked distinct under the microscope and behaved differently from other soft tissue cancers. The discovery also gave pathologists a more precise genetic marker to confirm the diagnosis. Since then, ASPSCR1 has remained best known for its role in the history of rare cancer genetics.