The NDUFA13 gene helps mitochondria, the parts of cells that make energy, turn food and oxygen into usable fuel. If it does not work properly, cells may struggle to make enough energy, which can lead to a mitochondrial condition with weakness, poor muscle tone, developmental delay, seizures, or heart problems. Symptoms can vary widely from person to person. The NDUFA13 gene is mainly known in medical genetics rather than in popular culture.
What is a gene?
Genes are stretches of DNA that hold instructions your cells use to make molecules or regulate activities in the body. Some genes carry the information needed to produce proteins, the parts of cells that do the work. Other genes are mainly involved in controlling when certain processes happen, where they take place, and how strongly they occur. Together, genes affect how the body develops and functions, and they can also influence how you respond to food, stress, or medications. For a deeper look at this topic, you can learn more in the LearnHub.
Overview
NDUFA13Gene function
What if the gene works
The NDUFA13 gene helps mitochondria, your cells’ energy makers, run complex I, an early step in turning food into usable energy. This supports steady energy supply for tissues with high energy needs, such as the brain, muscles, and heart.
Risk
What if the gene does not work
Variants in the NDUFA13 gene can impair mitochondrial energy production, causing a rare mitochondrial disease that often begins in infancy or childhood. Effects can range from milder developmental problems to more severe brain, muscle, or heart involvement.
Treatment
What does that mean for your treatment
For a pathogenic variant in the NDUFA13 gene that greatly reduces gene function, no gene-specific treatment or medication selection approach is currently established in clinical guidelines. The NDUFA13 gene is being studied in cancer and mitochondrial research as a possible biomarker and treatment target, but this has not yet changed routine care.
Conditions associated with NDUFA13
Gene function
What if the gene works
Inside mitochondria, the NDUFA13 gene supports one of the first steps your cells use to make energy. Its protein sits in complex I, a large energy producing machine in the inner mitochondrial membrane. When this system works normally, cells can steadily turn nutrients and oxygen into the fuel they need for daily activities.
The NDUFA13 gene helps complex I pass electrons along at the start of mitochondrial energy production. This lets your cells capture energy from food in a controlled, efficient way.
Its protein is one part of complex I and helps this large protein group stay assembled and stable in the mitochondrial membrane. When the parts fit together well, the whole system can run smoothly.
By supporting electron transfer, the NDUFA13 gene helps create the membrane charge that powers ATP production. ATP is the main fuel your cells use for tasks like muscle movement, nerve signaling, and tissue repair.
What is a variant?
A genetic variant is a minor difference in the DNA sequence of a gene. These changes are common and help shape normal human diversity, such as differences in appearance, metabolism, or how the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. Sometimes, however, a variant changes how a gene functions more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Understanding how variants influence the NDUFA13 gene's function starts with their effect on the protein: some changes make it unstable, shorten it, or stop it from fitting properly into mitochondrial complex I, a key part of the cell's energy-making machinery. Milder variants may leave some activity, while more severe variants can greatly reduce complex I assembly and cellular energy production. In people with disease-causing variants, this often matches with earlier onset or more pronounced features of mitochondrial disease.
How variants are linked to conditions
Among variants in the NDUFA13 gene linked to conditions, the main well-established association is a rare inherited mitochondrial disease called nuclear mitochondrial complex I deficiency, sometimes with Leigh syndrome. People with this confirmed diagnosis may have developmental delay, low muscle tone, movement problems, and episodes affecting breathing or energy levels.
A variant is not necessarily a diagnosis
Genetic variants are a standard part of human biology and are widespread in the general population. Most have no direct effect on health and instead reflect natural human diversity. For many genes, having 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 instances, 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 NDUFA13 gene. For many living with a disease-causing change in NDUFA13, risk is mainly linked to the genetic change itself, and a doctor or genetic counselor can help explain what that means for you or your family.
Inheritance of NDUFA13 variants
For families asking how NDUFA13 gene variants are inherited, the best established pattern is autosomal recessive for NDUFA13-related mitochondrial disease. This means a person usually inherits one altered copy from each parent, and parents who each carry one variant are often unaffected carriers. When both parents are carriers, each pregnancy has a 25% chance of the child inheriting both altered copies, a 50% chance of being a carrier, and a 25% chance of inheriting neither variant. The NDUFA13 gene is on chromosome 19, so this inheritance pattern affects sons and daughters equally.
What does my NDUFA13 result mean for my family?
For families with an NDUFA13-related condition, the pattern is usually recessive, which means parents are often healthy carriers. Brothers and sisters may also have the condition or be carriers, and other close relatives may want to learn whether they carry the family’s gene change. This information can be helpful for family planning and for understanding who else in the family could be affected.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a change, genetic testing for variants in the NDUFA13 gene usually analyzes DNA from blood, saliva, or a cheek swab. A lab reads the NDUFA13 gene and compares it with the usual sequence to look for variants, then classifies each finding as disease causing, uncertain, or not currently linked to health problems.
When should I consider getting a genetic test?
Genetic testing for the NDUFA13 gene may be considered when a child or adult has signs of a rare inherited condition that affects how cells make energy, such as unexplained developmental delay, muscle weakness, seizures, or high lactic acid levels. It can also help when there is a family history of a mitochondrial condition or a known NDUFA13 variant.
A genetic result is only one part of your health story
A genetic result can provide valuable insight, but how much it explains varies by the condition and the type 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 understood together with other parts of care. In other situations, a genetic result may give a clear answer. In areas such as medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can influence how a person responds to medicine. Some people break down or move a drug through the body differently, so the same treatment may work better for one person, have less effect in another, or cause more side effects. These differences are common and are one reason medication response can vary from person to person.
What is Pharmacogenetics?
Pharmacogenetics studies how genetic differences affect a person’s response to medications. It examines the relationship between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes influence how the body processes a drug or how strong its effects are. This information can help support more informed, individualized treatment decisions. You can read more about this topic in the LearnHub.
Drugs influenced by the NDUFA13 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choice or dose, so general questions about side effects, treatment response, or your overall health are best discussed with your doctor.
History
NDUFA13 first drew attention in the late 1990s, when researchers identified it during studies of how cells respond to interferon and retinoic acid and named it GRIM-19. It was then studied mainly in cancer and cell death research. Over time, scientists’ understanding of the gene’s function has changed. Later work showed that the same gene is also part of mitochondrial complex I, a key energy producing system inside cells, which led to the name NDUFA13. As medical science evolved, so did understanding of this gene. This shift from an immune response and cancer research gene to a recognized mitochondrial gene reflects a broader pattern in genetics, where early findings are refined as evidence grows.