The METTL5 gene helps cells fine tune how ribosomes read instructions to make proteins. When both copies do not work properly, protein production can be disrupted, especially during brain growth and early development. People with pathogenic variants in the METTL5 gene may have developmental delay, intellectual disability, smaller head size, short stature, and speech differences.
What is a gene?
Genes are stretches of DNA that carry instructions cells use to make molecules or direct processes in the body. Some genes provide the directions for building proteins, the parts of cells that do much of the work. Others mainly regulate when certain processes happen, where they occur, and how strongly they are carried out. Together, genes affect how the body develops and functions, 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
METTL5Gene function
What if the gene works
The METTL5 gene helps cells place a small chemical mark on RNA in ribosomes, the cell structures that make proteins. This supports steady protein production and normal growth, especially in the brain.
Risk
What if the gene does not work
Pathogenic variants in the METTL5 gene are linked to developmental delay or intellectual disability, sometimes with smaller head size or short stature. Milder and more severe variants can influence when features appear and how noticeable they are.
Treatment
What does that mean for your treatment
No treatment or management approach specifically guided by a pathogenic or loss-of-function variant in the METTL5 gene is currently established. The METTL5 gene is being studied in early cancer research as a possible drug target and biomarker, but this has not changed routine care.
Conditions associated with METTL5
Gene function
What if the gene works
Every day, your cells need ribosomes to turn genetic instructions into proteins. The METTL5 gene helps tune this machinery by placing a small chemical mark on ribosomal RNA. When this step runs normally, it supports smooth, accurate protein production during routine cell upkeep.
The METTL5 gene adds a small chemical tag to 18S ribosomal RNA, the RNA inside ribosomes. This mark helps fine tune the protein-making machinery your cells use every day.
Working with a partner protein called TRMT112, the METTL5 gene modifies a key area in the small part of the ribosome. This supports normal ribosome activity as cells read genetic instructions.
By shaping how ribosomes read RNA messages, the METTL5 gene supports steady protein production. This is part of how the METTL5 gene helps your cells make proteins for routine growth, repair, and upkeep.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, and how the body responds to environmental influences. Many variants do not cause any noticeable effect and simply represent natural genetic variation. Sometimes, though, 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
Variants in the METTL5 gene can alter the protein's shape or stability, reducing its ability to place a small chemical mark on RNA inside ribosomes, which cells use to build proteins. This is how METTL5 gene variants affect protein function in cells. Some variants leave partial activity, while changes that cut the protein short often leave little or no working protein. When both copies are more severely affected, the associated developmental condition often begins earlier and can be more pronounced.
How variants are linked to conditions
Pathogenic variants in both copies of the METTL5 gene can cause an inherited condition marked by developmental delay and intellectual disability. In reports on METTL5 gene variants linked to developmental delay and intellectual disability, some people also have delayed speech, smaller head size, short stature, or mild facial differences. This is a rare recessive condition, so a diagnosis is typically confirmed when both gene copies carry a disease-causing variant.
A variant is not necessarily a diagnosis
Variants in genes are a routine feature of human biology and are commonly found across the general population. Most do not directly affect health and instead reflect normal 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 also play a role. In some situations, though, a single well-characterized variant in a specific 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 METTL5 gene. For many living with a METTL5 gene change, the main factor is the gene change itself, and a doctor or genetic counselor can help explain what it may mean for you or your family.
Inheritance of METTL5 variants
METTL5-related conditions are inherited in an autosomal recessive pattern. This means a child usually inherits one altered copy of the METTL5 gene from each parent, and parents who carry one copy are typically unaffected carriers. When both parents carry a METTL5 gene variant, 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 neither altered copy. In practical terms, METTL5 inheritance often appears unexpectedly in a family until a child is diagnosed.
What does my METTL5 result mean for my family?
For METTL5, the best-known family pattern is recessive, which usually means both parents are healthy carriers. Brothers and sisters may also have the condition or be carriers, and other relatives on either side of the family may carry the same gene change without knowing it. This can matter for future pregnancies and for relatives who are planning children.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a change in the METTL5 gene, doctors use genetic testing for METTL5 variants on a blood sample, saliva, or a cheek swab. A lab reads the DNA sequence and compares it with the usual METTL5 gene code, then reports whether a variant was found and how it is classified.
When should I consider getting a genetic test?
Testing for changes in the METTL5 gene may be considered when a child has unexplained developmental delay, learning difficulties, or intellectual disability, especially if speech is also delayed. It can also help when similar problems run in the family or when the parents are related by blood.
A genetic result is only one part of your health story
A genetic finding can provide useful information, although how much it explains depends on the condition and on the kind of variant present. How the body functions over time is also shaped by many factors, including lifestyle, environment, age, and medical history. In some conditions, particularly those affected by many genes, genetic information offers context instead of certainty and makes the most sense when considered with other parts of care. In other situations, a genetic result can give a clear answer. For topics like medication response, genetic results can also help put personal experiences in context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body absorbs, breaks down, or responds to medicines. This helps explain why the same treatment works well for one person, causes more side effects in another, or seems to have less effect in someone else. These differences are common and can influence both how strongly a medicine works and how sensitive you are to it.
What is Pharmacogenetics?
Pharmacogenetics studies how differences in genes can affect the way someone responds to medication. It examines relationships between genes and medicines to better understand why the same treatment may not work the same way for every person. With many drugs, genes can influence how strongly a medicine works or how the body processes it. This understanding can support treatment decisions that are more informed and more personalized. You can read more about this topic in the LearnHub.
Drugs influenced by the METTL5 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in how medicines are chosen or used, so general questions about treatment, side effects, or new symptoms are best discussed with your doctor.