The IGFALS gene helps keep important growth signals stable in the bloodstream so the body can grow in a steady way. This gene plays an important role in helping growth-related proteins stay in circulation long enough to support normal childhood growth and puberty. If it does not work well, especially when both copies carry a pathogenic variant, a person may have short stature, slower growth, and puberty that starts later than expected. Some people also have low blood levels of growth factors on testing.
What is a gene?
Genes are pieces of DNA that hold instructions your cells use to make molecules or manage activities in the body. Some carry the code for producing proteins, which do much of the cell’s work. Others are mainly involved in controlling when certain processes happen, where they take place, and how active they are. Taken together, genes affect how the body grows and works, and they can influence your response to food, stress, and medications. For a deeper look at this topic, you can read more in the LearnHub.
Overview
IGFALSGene function
What if the gene works
The IGFALS gene helps make a blood protein that carries growth signals called IGF-I and IGF-II. This keeps these signals in the bloodstream longer and supports normal childhood growth and metabolism.
Risk
What if the gene does not work
Variants in the IGFALS gene can cause slower growth and short stature, sometimes with delayed puberty. Effects often range from mild to moderate, and more disruptive variants usually lower growth signals more, making growth changes appear earlier or more clearly.
Treatment
What does that mean for your treatment
No IGFALS-specific treatment or drug choice approach is currently established in clinical guidelines for people with a pathogenic or loss-of-function variant in the IGFALS gene.
Conditions associated with IGFALS
Gene function
What if the gene works
Growth depends on signals that need to stay stable as they travel through the blood. The IGFALS gene helps make a protein that carries and protects these signals, especially insulin-like growth factors. This helps explain how the IGFALS gene supports normal growth and development across childhood and adult life.
The IGFALS gene makes a protein that joins insulin-like growth factors with other carrier proteins in the bloodstream. This forms a larger package that can travel through the body more effectively.
Its protein helps protect these growth signals from being broken down too quickly in the blood. That keeps them available longer and supports a steadier supply for body tissues.
The carrier made from the IGFALS gene helps hold growth signals in reserve instead of leaving them all free at once. This supports a more even delivery of growth related messages over time.
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 variation in appearance, metabolism, and the way the body responds to environmental influences. Many have no noticeable effect and simply represent natural genetic variation. In some cases, though, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the IGFALS gene can change the acid labile subunit so it is made in smaller amounts, folded poorly, or broken down before it can stably bind its partner proteins. More disruptive variants may stop the protein from being produced at all, while milder variants can leave some residual activity. This spectrum helps explain how IGFALS gene variants affect protein function and why some people have earlier or more marked growth related features than others.
How variants are linked to conditions
When both copies of the IGFALS gene carry pathogenic variants, this causes acid-labile subunit deficiency, a rare inherited condition often linked with mild to moderate short stature and low blood levels of growth markers such as IGF-I and IGFBP-3. Some people also have delayed puberty or lower bone density. In practice, IGFALS gene variants linked to short stature usually refers to this diagnosis.
A variant is not necessarily a diagnosis
Variants in DNA are a usual feature of human biology and are widespread across the general population. Most do not directly affect health and instead reflect normal human diversity. For many genes, having a variant associated with a condition points to a possible link, not a certain diagnosis, particularly when several genes and environmental influences also play a role. In contrast, a single well-studied variant in one specific gene is sometimes enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For IGFALS, risk is mainly shaped by inheritance rather than lifestyle. It is higher when both parents carry a changed IGFALS gene, so a family history of this condition or parents who are biologically related can raise the chance of being born with it.
Inheritance of IGFALS variants
IGFALS gene inheritance for the known IGFALS-related growth condition follows an autosomal recessive pattern. This means a child usually inherits one IGFALS gene variant from each parent. Parents who carry one variant are usually unaffected carriers, but if both parents are carriers, each pregnancy has a 25% chance of the child inheriting both variants, a 50% chance of being a carrier, and a 25% chance of inheriting neither variant. Because the IGFALS gene is on chromosome 16, this pattern is the same for boys and girls.
What does my IGFALS result mean for my family?
For families, an IGFALS result usually matters most in a recessive pattern. Parents of a child with two changed IGFALS copies are often healthy carriers, and brothers and sisters may also be carriers or may have the same condition. Other close relatives, such as aunts, uncles, and cousins, can sometimes carry the same gene change in the family.
Genetic information
Genetic testing
How you find out about variants
Testing for variants in the IGFALS gene usually uses a blood or saliva sample, and IGFALS genetic testing works by reading the gene's DNA code and comparing it with the usual sequence. Results may identify a benign variant, a variant linked to an IGFALS related condition, or a variant of uncertain significance.
When should I consider getting a genetic test?
Genetic testing for the IGFALS gene may be worth discussing if there is unexplained short stature, slow growth, or delayed puberty, especially when blood tests show unusually low levels of growth-related proteins. It can also help if similar growth patterns run in the family.
A genetic result is only one part of your health story
A genetic finding can be informative, although how much it explains varies depending on the condition and the type of variant involved. Many other factors, including lifestyle, environment, age, and medical history, also shape how the body functions over time. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best considered together with 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. Small differences in genes can change how the body absorbs, breaks down, transports, or responds to a drug, so the same treatment may work better for one person than for another. These differences are common and can influence both how well a medicine works and how sensitive someone is to side effects.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences affect the way people respond to medications. By looking at relationships between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medicines, genes influence both how the body processes a drug and how strong its effects are. This information can support more informed, individualized treatment decisions. You can read more about this topic in the LearnHub.
Drugs influenced by the IGFALS gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how medicines will work, so questions about side effects, treatment response, or other health concerns are best discussed with your doctor.
History
Researchers identified the IGFALS gene in the late 1980s as part of work on the insulin like growth factor system, a group of signals linked to growth and development. In recent decades, awareness of this gene’s role has grown as doctors connected rare inherited IGFALS variants with distinctive growth patterns and changes seen on blood tests. From these first observations, research expanded steadily to families in different countries, which helped confirm the gene’s place in human growth studies. Scientific classifications changed as researchers learned more about the gene, especially as DNA testing became part of routine evaluation for unexplained short stature. Today, IGFALS is mainly recognized in clinical genetics rather than public culture, with its history shaped by steady laboratory and family based research.