The TMEM147 gene helps cells control where certain proteins sit within the cell’s internal membranes, including around the nucleus. This gene plays an important role in early development, so if it does not work properly, cell signaling can be disrupted. People with rare, more disruptive variants may have a developmental condition with learning difficulties, low muscle tone, movement changes, growth differences, or distinctive facial features.
What is a gene?
A gene is a stretch of DNA that holds instructions your cells use to make molecules or regulate processes in the body. Some genes carry the directions for making proteins, the parts of cells that do much of the work. Others mainly help decide when, where, and how strongly certain processes take place. Together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, or medications. For a more detailed look at this topic, you can learn more in the LearnHub.
Overview
TMEM147Gene function
What if the gene works
The TMEM147 gene helps position and control certain proteins in cell membranes, especially around the cell’s protein-making system. This supports normal cell signaling, protein handling, and early development.
Risk
What if the gene does not work
More disruptive variants in the TMEM147 gene are linked to a developmental condition with delayed speech and motor skills, intellectual disability, and often growth or facial differences. Milder variants may cause a less pronounced pattern.
Treatment
What does that mean for your treatment
For people with a pathogenic or loss-of-function variant in the TMEM147 gene, no gene-specific treatment or drug-selection approach is currently established in clinical guidelines. The TMEM147 gene is being studied in early-stage cancer research as a possible biomarker or drug target, but this has not changed routine care.
Gene function
What if the gene works
TMEM147 helps organize membranes inside your cells, especially around the endoplasmic reticulum and the nucleus. Understanding what the TMEM147 gene does in the body starts with its role in handling membrane proteins, which are proteins that sit within cell membranes. When this gene is working normally, cells can place certain proteins in the right membrane and keep these inner structures orderly.
Inside the endoplasmic reticulum (the cell’s protein processing membrane network), the TMEM147 gene helps certain proteins settle into the right membrane. This supports the normal early handling of proteins that need to sit within cell membranes.
TMEM147 works with partner proteins as a small cell membrane team. Together they support membrane protein assembly and early quality control, meaning cells can check that these proteins are built and positioned properly.
TMEM147 is also present in the membrane around the nucleus, the part of the cell that stores DNA. There it helps organize membrane proteins and supports the usual shape and layout of this inner cell boundary.
What is a variant?
A genetic variant is a small alteration in the DNA sequence of a gene. These changes are common and help create normal human diversity, such as differences in appearance, metabolism, or the body's response to environmental influences. Many have no noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can affect a gene's function more strongly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Changes in the TMEM147 gene can alter how much TMEM147 protein a cell makes and how well that protein folds, stays stable, or reaches the right place in the cell. In practice, how variants in the TMEM147 gene affect protein function depends on the change itself. Milder variants may partly weaken the protein or its interactions with other proteins, while more severe variants can shorten it or leave the cell with little or no working protein.
How variants are linked to conditions
Variants in the TMEM147 gene do not yet have a broadly confirmed link to a specific health condition, and links between TMEM147 gene variants and disease are still being clarified. Research can evolve over time as more families and study data become available. Anyone with a confirmed TMEM147-related finding should rely on guidance from their doctor or genetic counselor for advice that fits their own health history.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of being human and are common throughout the general population. Most do not directly affect health and simply contribute to natural human variation. For many genes, carrying a variant associated with a condition suggests 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 can be 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 TMEM147 gene. For many living with a TMEM147 change, risk appears to depend mainly on the exact genetic change rather than lifestyle or everyday exposures, and a doctor or genetic counselor can help explain personal risk.
Inheritance of TMEM147 variants
There is not yet a broadly confirmed, disease-specific Mendelian pattern for how TMEM147 gene variants are inherited, and this picture may become clearer as research develops. For families trying to understand how TMEM147 gene variants are inherited, it helps to know that the TMEM147 gene is located on chromosome 19, which is an autosome. That means each person inherits one copy from their mother and one copy from their father.
What does my TMEM147 result mean for my family?
There is not yet a broadly confirmed inheritance pattern tied to a specific condition for TMEM147 in the way there is for some better-known genes, and this picture may become clearer over time. If you have a specific TMEM147 result and want to understand what it could mean for relatives, a doctor or genetic counselor can explain it in the context of your family.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the TMEM147 gene, TMEM147 genetic testing reads your DNA from a blood sample, cheek swab, or saliva sample. A laboratory compares the gene's sequence with the usual pattern and reports any variants that may help explain symptoms or confirm a diagnosis.
When should I consider getting a genetic test?
There is not yet a broadly established TMEM147-specific reason for genetic testing in routine care. Testing decisions are usually made with a doctor or genetic counselor based on symptoms, family history, and whether there is concern for a rare inherited condition.
A genetic result is only one part of your health story
A genetic result can be informative, but how much it reveals depends on the condition and on the kind of variant involved. Many factors, including lifestyle, environment, age, and medical history, influence how the body functions over time. For some conditions, especially those shaped 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. This happens because inherited differences can change how the body handles a drug, including how it is absorbed, broken down, or how strongly it acts at its target. As a result, the same treatment may work better for some people, have less effect in others, or cause side effects more easily.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences shape a person’s response to medications. It focuses on relationships between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes can influence both how the body handles a drug and how strong its effects are. This information can support treatment decisions that are more informed and more individualized. More information on this topic is available in the LearnHub.
Drugs influenced by the TMEM147 gene
When should I seek medical advice?
There isn't yet a broadly confirmed role for this gene in guiding how medicines are chosen or used, so questions about treatments, side effects, or new symptoms are best discussed with your doctor.