The POMC gene makes a larger protein that is turned into several hormones that help control hunger, body weight, skin pigment, and cortisol, a hormone your body needs for stress, blood sugar, and blood pressure. This gene plays an important role in communication between the brain and adrenal glands. If it does not work properly, people may develop intense hunger and obesity from early childhood, and some are born with adrenal insufficiency, which can cause low blood sugar, weakness, and vomiting. Some also have pale skin and red hair.
What is a gene?
A gene is a stretch of DNA that carries instructions cells use to make molecules or regulate activities in the body. Some genes provide the code for proteins, which are the parts of cells that do much of the work. Others mainly guide when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body grows and works, and they can also influence how you respond to food, stress, and medications. For a deeper look at this topic, you can find more information in the LearnHub.
Overview
POMCGene function
What if the gene works
The POMC gene helps your body make several hormones that affect hunger, body weight, skin coloring, and pain signaling. It also supports normal adrenal function by helping control cortisol production.
Risk
What if the gene does not work
More severe variants in the POMC gene often cause adrenal insufficiency in infancy and early weight gain, sometimes with pale skin or red hair. Milder variants may leave some gene activity and can lead to later or less pronounced obesity.
Treatment
What does that mean for your treatment
A pathogenic or loss-of-function variant in the POMC gene can make a person eligible for setmelanotide, which targets this pathway and may reduce constant hunger while supporting weight loss. Many people with this gene change also need lifelong steroid hormone replacement because the adrenal glands may not make enough cortisol.
Conditions associated with POMC
Gene function
What if the gene works
Many daily body signals start with the POMC gene. It gives your cells instructions to make a larger starter protein that is cut into several hormones. These hormones help manage hunger, stress, skin color, and some pain signals. This helps explain how the POMC gene helps control appetite and stress hormones in everyday life.
The POMC gene provides the recipe for a larger starter protein. Your body then cuts this protein into several smaller hormones, each with its own job.
One hormone made from POMC, ACTH (a signal that tells the adrenal glands what to do), helps trigger cortisol release. This supports a steady response to stress, illness, and low blood sugar.
Other POMC signals act in the brain to help you feel full after eating. They also help balance energy use, which is part of how the POMC gene helps control appetite and body weight.
Some POMC hormones signal pigment cells in the skin to make melanin, the substance that gives skin and hair their color. This supports normal body pigmentation.
What is a variant?
A genetic variant is a minor change in a gene’s DNA sequence. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, and the way the body responds to environmental influences. Many variants do not have any noticeable effect and simply reflect 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
POMC gene variants can reduce or stop production of the POMC protein, or make it harder for cells to cut it into working hormone pieces. This explains how POMC gene variants affect protein function and cell signaling. Milder variants may leave some activity, while more severe variants can remove it almost completely. That difference often shapes whether POMC deficiency features appear earlier and are more pronounced.
How variants are linked to conditions
Rare pathogenic variants in the POMC gene are linked to severe early onset obesity and can cause POMC deficiency, a rare condition that also includes adrenal insufficiency from infancy. Some affected people also have pale skin and red hair. Separately, other changes in or near the POMC gene have been associated with body weight in population studies, but these common variants only influence risk and do not determine whether obesity will develop.
A variant is not necessarily a diagnosis
Genetic variants are common across the general population and are a normal feature of human biology. Most do not directly affect health and simply reflect natural variation among people. For many genes, having a variant associated with a condition suggests a possible link rather than a certain diagnosis, particularly when several genes and environmental influences play a role. In contrast, a single well understood variant in a specific gene can sometimes be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For POMC-related conditions, risk is mostly set by the gene change itself rather than by lifestyle. The main factor that raises risk is inheriting a disease-causing POMC change from both parents, so family history and having carrier parents matter most. There is not enough evidence to say that diet, exercise, or other everyday factors meaningfully lower this inherited risk.
Inheritance of POMC variants
For families asking how POMC gene variants are inherited, the well-established pattern for POMC-related disease is autosomal recessive. This means a child usually inherits one nonworking copy of the POMC gene from each parent, and the parents are often healthy carriers. When both parents carry a disease-causing variant, each pregnancy has a 25% chance of an affected child, a 50% chance of a carrier child, and a 25% chance of a child who did not inherit either variant. Sons and daughters are affected equally.
What does my POMC result mean for my family?
For the rare condition caused by harmful changes in the POMC gene, the pattern is usually recessive, which means close relatives may be carriers even if they do not have symptoms. Brothers and sisters could also be affected or be carriers, depending on which gene changes they inherited. For family members, the main question is often whether the same POMC change is present in others.
Genetic information
Genetic testing
How you find out about variants
Testing for variants in the POMC gene is usually done on a blood or saliva sample. If you are looking into POMC gene genetic testing, the lab reads your DNA to check for changes in this gene. Results may identify a pathogenic variant, a benign variant, or an uncertain finding.
When should I consider getting a genetic test?
Genetic testing for the POMC gene may be worth considering when a baby or young child has extreme hunger and rapid weight gain very early in life, especially along with low cortisol levels, adrenal problems, or repeated low blood sugar. It can also help clarify the cause when this pattern runs in a family.
A genetic result is only one part of your health story
A genetic result can be informative, but how much it reveals varies by the condition and the kind of variant involved. Over time, many factors shape how the body functions, including lifestyle, environment, age, and medical history. For some conditions, especially those affected by many genes, genetic information provides context rather than certainty and is best considered along 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. Two people can take the same treatment at the same dose, yet one may get better benefit while the other may have less effect or be more sensitive to side effects. Part of the reason is that inherited differences can change how the body breaks down, transports, or responds to a drug. This kind of variation is common and helps explain why medication response is not the same for everyone.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in a person’s genes can affect the way they respond to medicines. It studies links between genes and medications to help explain why the same treatment may not work the same way for everyone. For many drugs, genes influence both how the body handles a medicine and how strong its effects may be. Understanding this can support treatment choices that are better informed and more individualized. More information on this topic is available in the LearnHub.
Drugs influenced by the POMC gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding how most medicines are chosen or adjusted, so general concerns about symptoms, side effects, or treatment changes are best discussed with your doctor. For POMC, medication discussions may be especially important in rare inherited obesity, because changes in this gene can help explain whether a targeted weight-management treatment may be relevant.
History
Researchers first pieced together the history of the POMC gene through studies of pituitary hormones in the 1970s, when several seemingly separate hormone fragments were found to come from one larger precursor. This was an important shift in endocrinology because it showed that one gene could give rise to multiple signaling molecules after processing inside cells. Building on this early work, scientists identified and cloned the human POMC gene in the early 1980s. Over time, descriptions became more precise as researchers linked rare inherited POMC variants to early-onset obesity, adrenal hormone problems, and changes in pigmentation. These findings helped connect laboratory hormone research with real inherited conditions seen in children and families. Today, POMC is recognized as a well-established part of the history of hormone and genetic research.