The STRA6 gene helps cells take in vitamin A, which is needed for normal growth and for the development of the eyes, lungs, heart, and other organs. If the STRA6 gene does not work well, especially with severe variants inherited from both parents, a baby may be born with major differences in these body systems. Some people with STRA6-related conditions also have slower growth, learning difficulties, or hormone problems, although effects can vary from person to person.
What is a gene?
Genes are sections of DNA that give your cells instructions for making molecules or for regulating processes in the body. Some genes carry the directions for producing proteins, which are the working parts of cells. Other genes mainly control when certain processes happen, where they happen, and how strongly they are carried out. Taken together, genes affect how the body grows and works, and they can influence how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
STRA6Gene function
What if the gene works
The STRA6 gene helps cells take in vitamin A from the bloodstream. This supports normal eye development, growth, and other body processes that use vitamin A.
Risk
What if the gene does not work
More severe variants in the STRA6 gene can cause a rare condition with eye development problems, including small or absent eyes, along with heart, lung, or diaphragm differences. Milder variants may lead to a wider range of features and severity.
Treatment
What does that mean for your treatment
No STRA6-specific treatment or management approach is currently established for pathogenic variants in the STRA6 gene. The STRA6 gene is being studied as a possible biomarker and drug target in some cancers, but this has not led to guideline-based treatment choices.
Conditions associated with STRA6
Gene function
What if the gene works
Your cells need a steady supply of vitamin A for sight, growth, and routine tissue care. The STRA6 gene helps certain cells draw vitamin A in from the bloodstream in a controlled way. Understanding how the STRA6 gene helps the body use vitamin A makes its day to day role easier to picture.
STRA6 sits at the cell surface and helps bring vitamin A into the cell. It takes vitamin A from its blood carrier and moves it across the cell membrane.
Its protein recognizes retinol binding protein 4 (RBP4), the main blood carrier for vitamin A. This targeted binding helps cells capture vitamin A directly from the bloodstream.
By bringing vitamin A into cells, STRA6 helps provide the starting material for active vitamin A forms. These forms support everyday processes such as vision, cell growth, and normal tissue development.
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 differences 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 situations, 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
Variants in the STRA6 gene can change the shape of its surface protein, reduce its stability, or keep it from reaching the right place in the cell, so vitamin A is taken up less effectively. This explains how STRA6 gene variants affect protein function at a cellular level. Milder variants may leave some activity, while more severe variants can cause little or no activity and are often linked to earlier and broader developmental changes.
How variants are linked to conditions
Pathogenic variants in the STRA6 gene, usually affecting both gene copies, cause Matthew-Wood syndrome, a rare condition that often includes very small or absent eyes. A variant in the STRA6 gene linked to Matthew-Wood syndrome can also be associated with differences in the heart, lungs, diaphragm, and growth before birth. The features can vary from person to person, even within the same family.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are widely present in the general population. Most do not have a direct effect on health and simply contribute to natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when several genes and environmental factors are involved. In some situations, 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 STRA6 gene. For people with a disease-causing STRA6 change, risk is mainly shaped by the genetic change itself rather than day-to-day lifestyle factors, and a doctor or genetic counselor can help explain what it may mean for you or your family.
Inheritance of STRA6 variants
For families learning how STRA6 gene variants are inherited, the usual pattern is autosomal recessive. This means a child inherits one altered copy of the STRA6 gene from each parent. Parents who carry one variant usually do not have the condition themselves. When both parents carry a variant in the STRA6 gene, each pregnancy has a 25% chance of the child inheriting both altered copies, a 50% chance of being a carrier, and a 25% chance of inheriting two working copies.
What does my STRA6 result mean for my family?
For families with a disease-causing change in the STRA6 gene, parents are often healthy carriers, and brothers or sisters may also be carriers or may be affected. Close relatives may want to learn whether the same STRA6 change is present in the family, especially when there is a history of eye, heart, lung, or diaphragm problems linked to this condition. The meaning for relatives depends on the exact genetic result found in your family.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for variants in the STRA6 gene is done with a blood or saliva sample. A lab reads the DNA code in the STRA6 gene and compares it with the usual sequence to look for changes, often as part of a broader eye or developmental gene panel.
When should I consider getting a genetic test?
Genetic testing for the STRA6 gene may be considered when a baby or fetus has a pattern of birth differences such as very small or absent eyes along with heart, lung, or diaphragm problems. It can also help if there is a family history of this rare condition or a previous child with similar findings.
A genetic result is only one part of your health story
A genetic finding can provide useful insight, but what it can tell you varies based on the condition and the kind 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 best understood together with other parts of care. In other situations, a genetic result may offer 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 your body responds to medicines. Small differences in genes can change how a drug is absorbed, broken down, or used by the body. This helps explain why the same treatment works well for one person, has less effect for another, or causes more side effects 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 study that examines how genetic differences affect the way people respond to medications. It focuses on links between genes and drugs to better explain why the same treatment can work differently from one person to another. With many medicines, genes can influence how powerfully a drug works or how the body handles it. This information can support treatment decisions that are both more informed and more individualized. To explore this subject further, you can learn more in the LearnHub.
Drugs influenced by the STRA6 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choice or dose, so questions about medicines, side effects, or your overall health are best discussed with your doctor.
History
In the late 1990s, researchers first identified the STRA6 gene while studying genes switched on by retinoic acid, a vitamin A related signal. From these first observations, research expanded steadily. A major milestone came in the 2000s, when STRA6 was recognized as the long sought receptor linked to vitamin A transport into cells. That finding gave the gene a clear place in human biology and drew wider attention from vision and developmental researchers. Soon afterward, pathogenic variants in the STRA6 gene were linked to rare conditions present from birth, including Matthew-Wood syndrome. These discoveries helped connect earlier laboratory work with clinical genetics and shaped how the gene is understood today.