The CDC73 gene helps control when cells grow and divide. If it does not work properly, cells in certain tissues may grow in less controlled ways, which is linked to hyperparathyroidism-jaw tumor syndrome and a higher chance of parathyroid tumors, including parathyroid cancer. Some people with a pathogenic variant in the CDC73 gene may also develop jaw growths or changes in the kidneys or uterus. This gene is mainly recognized in medical genetics rather than in popular culture.
What is a gene?
Genes are stretches of DNA that give cells instructions for building molecules or directing activities in the body. Some carry the code to make proteins, which do much of the cell’s work. Others are used mainly to regulate when certain processes happen, where they happen, and how active they are. In combination, genes affect how the body develops and functions, and they can also influence how you respond to food, stress, or medications. For a closer look at this topic, you can learn more in the LearnHub.
Overview
CDC73Gene function
What if the gene works
The CDC73 gene helps control how cells grow and divide. It also supports normal gene activity, which helps tissues develop and renew in a balanced way.
Risk
What if the gene does not work
When the CDC73 gene is not working properly, it is linked to hyperparathyroidism and parathyroid tumors, including cancer. Some people also develop jaw, kidney, or uterine growths, and milder or more severe variants can influence which features appear.
Treatment
What does that mean for your treatment
No CDC73-specific treatment or management approach is currently established. Loss of CDC73 function is being studied and used in specialist pathology as a diagnostic and prognostic marker in some parathyroid tumors.
Conditions associated with CDC73
Gene function
What if the gene works
Cells use the CDC73 gene to help manage gene activity and keep cell growth well organized. It makes a protein called parafibromin that works mainly in the cell nucleus, where DNA is stored. This steady work supports normal CDC73 gene function across many tissues.
The CDC73 gene helps cells read DNA instructions and make RNA, the working copy used to build proteins. Its protein joins a helper group that keeps this process moving in an orderly way.
It helps switch selected genes on or off at the right time. This lets cells respond to routine needs without losing their usual pattern of activity.
Parafibromin, the protein made from this gene, supports the signals that tell cells when to grow, divide, or pause. That timing helps keep everyday tissue renewal organized.
Inside the cell nucleus, this protein works with other proteins that control gene activity rather than acting alone. Those partnerships help coordinate many day to day cell tasks across the body.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These differences are common and help shape normal human diversity, such as variation in appearance, metabolism, or the body’s response to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can more substantially change how a gene functions and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the CDC73 gene often make the parafibromin protein shorter, unstable, or unable to reach the cell nucleus, so it cannot interact normally with other growth control proteins. This is how CDC73 gene variants affect protein function at the cell level. Some variants only partly reduce activity, while more disruptive variants can cause near complete loss of function and are more often linked to earlier or more pronounced features in CDC73-related conditions.
How variants are linked to conditions
Pathogenic variants in the CDC73 gene can cause hyperparathyroidism-jaw tumor syndrome, an inherited condition linked to overactive parathyroid glands, jaw tumors, and sometimes kidney or uterine growths. Some variants in the CDC73 gene also cause familial isolated hyperparathyroidism. The CDC73 gene and parathyroid cancer risk are closely linked, because some affected families have a higher chance of parathyroid carcinoma.
A variant is not necessarily a diagnosis
Genetic variants are a normal feature of human biology and are common across the general population. Most do not directly affect health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a confirmed diagnosis, especially when multiple genes and environmental factors also contribute. In some situations, however, a single well understood variant in a specific gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
A harmful change in the CDC73 gene can strongly raise the chance of parathyroid tumors and, less often, jaw, kidney, or uterine growths. Risk can vary by the exact gene change and family history, but there is not enough evidence to say that lifestyle changes lower this inherited risk. Regular follow-up can help find problems early.
Inheritance of CDC73 variants
Inheritance of the CDC73 gene variants is usually autosomal dominant. This means a parent carrying a disease-causing variant in the CDC73 gene can pass it to a child of any sex, and each pregnancy has a 50% chance of inheriting that variant. Men and women can both inherit it and pass it on. Not everyone who inherits a CDC73 gene variant will develop the same health features, so effects can vary within the same family.
What does my CDC73 result mean for my family?
For CDC73, family impact is usually described in a dominant pattern, which means close relatives such as parents, brothers, sisters, and children may also carry the same gene change. That can matter because some families have a higher chance of parathyroid growths, high calcium levels, or related tumors. In some people, the change is new and not inherited from either parent, so a positive result does not always mean a parent has it too.
Genetic information
Genetic testing
How you find out about variants
CDC73 genetic testing for hyperparathyroidism-jaw tumor syndrome usually uses blood or saliva to look for variants in the CDC73 gene. A lab reads the gene's DNA sequence and may also check for missing or extra pieces. Results can help clarify whether a personal or family history fits this inherited condition.
When should I consider getting a genetic test?
Consider CDC73 testing if you or close relatives have had very high calcium levels, parathyroid tumors, parathyroid cancer, or hyperparathyroidism-jaw tumor syndrome. Testing can also make sense when these problems start at a young age or affect several people in the same family.
A genetic result is only one part of your health story
A genetic finding can provide useful information, but how much it explains depends on the condition and on the kind of variant involved. Over time, many factors, including lifestyle, environment, age, and medical history, influence how the body works. For some conditions, especially those shaped by many genes, genetic information offers context rather than certainty and is best understood together with other parts of care. In other situations, a genetic result can give a clear answer. In areas like medication response, it can also help place individual experiences in context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Two people taking the same treatment may process it differently, so one may get the expected benefit while another may notice less effect or be more sensitive to side effects. These differences are common and can reflect how the body breaks down, moves, or responds to a drug. Genetics is one part of the picture, along with age, other health conditions, and other medicines.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can affect a person’s response to medicines. By looking at links between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medications, genes can influence both how strongly a drug works and how the body processes it. Understanding this can support treatment decisions that are more informed and more individualized. More detail on this topic is available in the LearnHub.
Drugs influenced by the CDC73 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how medicines will work or what side effects they may cause. Questions about new symptoms, medicine changes, side effects, or possible drug interactions are best discussed with your doctor or pharmacist.
History
Throughout history, doctors described families with unusual parathyroid tumors and jaw growths long before the responsible gene was known. In the 1990s, researchers traced this inherited pattern to a region on chromosome 1. Building on this early work, scientists uncovered more about the gene, and in 2002 the CDC73 gene was identified as the cause of hyperparathyroidism-jaw tumor syndrome in many affected families. It was first named HRPT2, and later renamed CDC73 as understanding of its broader role improved. Over time, descriptions became more precise, especially as testing showed that changes in this gene could also appear in some parathyroid cancers.