The METTL13 gene helps control how cells make proteins by fine tuning a key part of the machinery that builds them. If it does not work properly, protein production can become less balanced, which may affect growth and brain development. This gene plays an important role in cell growth. Some people with rare, more disruptive variants in the METTL13 gene have developmental delay, speech delay, or intellectual disability.
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 information needed to produce proteins, the cell’s working parts. Other genes mainly direct when certain processes occur, where they take place, and how strongly they operate. Taken together, genes affect how the body develops and functions, and they can also shape how you respond to food, stress, or medications. For a more detailed look at this topic, you can find additional information in the LearnHub.
Overview
METTL13Gene function
What if the gene works
The METTL13 gene helps control how cells make proteins by modifying a helper protein used during protein building. This supports steady cell growth and routine cell activity.
Risk
What if the gene does not work
Changes in the METTL13 gene can range from milder to more severe variants. These can reduce how well cells add small chemical marks to a helper protein involved in making new proteins, which may alter control of protein production.
Treatment
What does that mean for your treatment
No METTL13-specific treatment or drug choice is currently established in clinical guidelines for people with a pathogenic or loss-of-function variant in the METTL13 gene. METTL13 is being studied in cancer research as a possible biomarker and drug target, but this has not yet changed routine care.
Gene function
What if the gene works
Your cells use the METTL13 gene to fine tune part of protein production. It adds small chemical tags called methyl groups to eEF1A, a helper protein that brings amino acids to a growing protein. This is one of the main ways the METTL13 gene helps make proteins in the body.
The METTL13 gene places small methyl marks on eEF1A, a protein your cells use during protein building. These marks act like fine adjustments that change how this helper behaves.
By modifying eEF1A at two specific spots, this gene helps control translation (the step where cells read RNA instructions to make proteins). This supports a smooth, well tuned flow of protein production.
Proteins are the working parts your cells use for structure, signaling, and daily upkeep. By helping tune one core protein making helper, the METTL13 gene supports these routine cell jobs.
What is a variant?
A genetic variant is a small alteration 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 have any noticeable effect and simply reflect natural genetic variation. In some situations, though, a variant can affect 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 METTL13 gene can change the shape, stability, or activity of its protein, which may reduce how well it adds methyl marks (small chemical tags) to eEF1A, a protein involved in making other proteins. In terms of how METTL13 variants affect protein function, some changes are milder and only partly lower activity, while more disruptive variants can sharply reduce or stop enzyme action. These differences can alter protein interactions and cellular protein production to different degrees.
How variants are linked to conditions
Variants in the METTL13 gene do not yet have a broadly confirmed link to a specific inherited health condition, although research on METTL13 gene variants and health conditions is still evolving. If you have a reported METTL13 variant, your doctor or genetic counselor can interpret it in the context of your personal and family history.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are widely present in the general population. Most do not have a direct effect on health and simply reflect natural human diversity. In 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 situations, though, a single well-characterized variant in a particular gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There isn't yet broadly confirmed evidence on specific factors that increase or reduce health risk related to the METTL13 gene. If a METTL13 change is found on testing, personal risk usually depends more on the exact gene change and the health condition being considered than on known lifestyle factors.
Inheritance of METTL13 variants
For families trying to understand how METTL13 gene variants are inherited, there is not yet a broadly confirmed inheritance pattern tied to a specific METTL13-related condition. As research develops, this picture may become clearer. The METTL13 gene is located on chromosome 1, which is an autosome, so each person inherits one copy from each parent. In general, that means METTL13 is passed through families in the same basic way as most genes on the numbered chromosomes.
What does my METTL13 result mean for my family?
There is not yet a broadly confirmed inheritance pattern tied to a specific condition for the METTL13 gene, and understanding of this gene is still developing. If you have a METTL13 result and want to know what it could mean for close relatives, a doctor or genetic counselor can explain it in the context of your exact finding and family history.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the METTL13 gene, genetic testing for METTL13 variants usually analyzes DNA from blood, saliva, or a cheek swab. A lab reads the METTL13 gene sequence and compares any changes with established evidence to classify them as benign, likely linked to a condition, or of uncertain significance.
When should I consider getting a genetic test?
There isn't yet a broadly established, METTL13-specific clinical reason for testing. Decisions about genetic testing are usually based on your symptoms, medical findings, and family history, ideally with a doctor or genetic counselor.
A genetic result is only one part of your health story
A genetic result can be informative, but how much it explains depends on the condition and the type of variant involved. Other factors, including lifestyle, environment, age, and medical history, also shape how the body works over time. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best interpreted alongside other parts of care. In other situations, it may give a clear answer. In areas like medication response, genetic results can also help place individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same treatment works well for one person, seems less effective for another, or causes more side effects in someone else. Part of the difference comes from how the body breaks down, moves, or responds to a drug, and inherited gene changes are one common reason for that variation.
What is Pharmacogenetics?
Pharmacogenetics is the area of study focused on how genetic differences affect response to medications. It examines links between genes and drugs to help explain why treatments do not work the same way for every person. For many medicines, genes influence how strongly a drug works or how the body processes it. This understanding can support treatment decisions that are more informed and more personalized. More detail on this topic is available in the LearnHub.
Drugs influenced by the METTL13 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in how people respond to medicines. If you have concerns about side effects, unusual reactions, or whether a treatment is working, talk with your doctor, especially before starting, stopping, or changing any medication.
History
METTL13 entered the research literature during the broader effort to catalog human genes with methyltransferase like features, a group suspected to add small chemical marks to proteins. Initially understood only through sequence clues, later recognized as tied to a specific gene, it gained clearer identity as laboratory studies connected it to modification of the protein eEF1A. From these first observations, research expanded steadily, especially in cancer biology, where altered METTL13 activity drew attention in tumor studies. Over time, scientists’ understanding of the gene’s role has changed as cell and protein mapping techniques became more precise. Its history is mainly a modern research story rather than a public one, shaped by advances in genomics and protein science over the past two decades.