The ANKRD23 gene helps make a protein that likely supports how other proteins connect and work inside cells. This gene plays an important role in tissues involved in energy use and how the body stores and uses fat, so if it does not work as expected, cell signaling and metabolism may be affected.
What is a gene?
A gene is a stretch of DNA that carries instructions your cells use to make molecules or direct activities in the body. Some genes hold the directions for producing proteins, which do much of the cell’s work. Others mainly regulate when certain activities take place, where they occur, and how strongly they operate. Together, genes affect how the body grows and functions, and they can influence how you respond to food, stress, or medicines. You can find more on this topic in the LearnHub.
Overview
ANKRD23Gene function
What if the gene works
The ANKRD23 gene gives cells instructions for making a protein with ankyrin repeats, structures that help proteins interact with one another. It is active in several tissues, including fat tissue, and may support normal cell signaling.
Risk
What if the gene does not work
Changes in the ANKRD23 gene may alter its ankyrin repeat protein, weakening how it connects with other proteins inside cells. Milder variants may have little effect, while more severe variants can disrupt this function more strongly.
Treatment
What does that mean for your treatment
For a pathogenic or loss-of-function variant in the ANKRD23 gene, no gene-specific treatment or management approach is currently established in clinical guidelines.
Gene function
What if the gene works
Your cells use the ANKRD23 gene as part of routine protein coordination. It produces a protein that contains ankyrin repeats, a pattern often used to help proteins connect with one another. When this gene is working normally, these contacts can happen in a controlled, organized way.
The ANKRD23 gene makes a protein with ankyrin repeat regions, which are common structures that help proteins attach to other proteins. In everyday cell activity, this supports orderly protein teamwork and shows how the ANKRD23 gene works in the body.
What is a variant?
A genetic variant is a minor change 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 represent natural genetic variation. In some cases, though, a variant changes how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Explanations of how ANKRD23 gene variants affect protein function center on changes that can alter the protein’s shape, stability, or ability to bind its usual partners inside cells. Milder variants may slightly reduce the protein’s activity or amount, while more severe variants can truncate the protein or sharply lower how much the cell makes. These differences can lead to a spectrum of functional impact, from subtle disruption to marked loss of normal cellular interactions.
How variants are linked to conditions
Variants in the ANKRD23 gene do not yet have a broadly confirmed link to a specific health condition, although this can change as research develops. If you have a reported ANKRD23 gene variant and are trying to understand possible health effects, guidance from your doctor or genetic counselor is the most reliable place to start.
A variant is not necessarily a diagnosis
Genetic differences are a normal, common part of human biology. Most variants do not have a direct effect on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition points to a possible link rather than a definite diagnosis, especially when several genes and environmental factors also play a role. In other cases, 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 is not yet broadly confirmed evidence on specific factors that increase or reduce health risk related to the ANKRD23 gene. Anyone with questions about personal or family risk can talk with a doctor or a genetic counselor.
Inheritance of ANKRD23 variants
There is not yet a broadly confirmed disease specific inheritance pattern for the ANKRD23 gene, so how ANKRD23 gene variants are inherited in relation to a defined health condition is still being clarified. The ANKRD23 gene is located on chromosome 2, which is an autosome. That means each person inherits one copy from each parent, and any inherited variant could come from either side of the family.
What does my ANKRD23 result mean for my family?
There is not yet a broadly confirmed inheritance pattern tied to a specific health condition for ANKRD23, although this can change as research grows. If you have a specific ANKRD23 result and want to understand what it could mean for relatives, a doctor or genetic counselor can help put that finding in the right family context.
Genetic information
Genetic testing
How you find out about variants
ANKRD23 genetic testing looks for variants in the ANKRD23 gene using a blood, saliva, or cheek swab sample. A lab reads the gene's DNA code and compares it with the usual pattern to identify differences. Results may show no variant, a known variant, or a change whose health effect is not yet clear.
When should I consider getting a genetic test?
There is not yet a broadly established, ANKRD23-specific clinical reason for genetic testing. Decisions about testing are best made with a doctor or genetic counselor based on your health history and family history.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but how much it reveals varies by the condition and the type of variant involved. Over time, many factors, including lifestyle, environment, age, and medical history, influence how the body functions. In some conditions, especially those shaped 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 can offer a clear answer. In areas like medication response, genetic results can also help put personal experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body handles some medicines, so the same treatment does not work the same way for everyone. Small DNA differences can change how quickly a drug is broken down, moved through the body, or reaches its target. This is common and can influence how much benefit a medicine provides or how sensitive someone is to side effects. Genetics is one part of the picture, along with age, overall health, and other medicines you may take.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences shape a person’s response to medicines. It studies links between genes and drugs to help explain why the same treatment can work differently from one person to another. For many medicines, genes influence both how strongly a drug works and how the body handles it. This information can support more informed, individualized treatment decisions. You can read more about this topic in the LearnHub.
Drugs influenced by the ANKRD23 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in how people respond to medicines, so questions about side effects, treatment changes, or other health concerns are best discussed with your doctor.