The UQCRQ gene provides instructions for a small part of the machinery inside mitochondria, the parts of cells that make energy. This gene plays an important role in helping cells turn food and oxygen into usable energy. If it does not work well, the brain, muscles, and other tissues with high energy needs may be affected, and some people develop a mitochondrial condition with developmental delay, low muscle tone, feeding problems, or a rise in lactic acid on tests.
What is a gene?
Genes are stretches of DNA that provide cells with instructions to make molecules or regulate activities in the body. Some genes hold the information needed to produce proteins, the parts of cells that do much of the work. Others mainly guide when certain processes happen, where they take place, and how active they are. Together, genes affect how the body develops and works, and they can also shape how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
UQCRQGene function
What if the gene works
The UQCRQ gene helps mitochondria, your cells’ energy makers, run part of the system that turns food and oxygen into usable energy. This supports a steady energy supply in tissues with high demand, like muscles and the brain.
Risk
What if the gene does not work
More severe variants in the UQCRQ gene can cause a mitochondrial energy condition, often with low blood sugar, high lactic acid levels, liver problems, and delayed development. Milder variants may leave more residual function, which can influence when symptoms begin and how pronounced they are.
Treatment
What does that mean for your treatment
No UQCRQ-specific treatment or drug selection approach is currently established. Care for people with pathogenic variants in the UQCRQ gene is supportive and based on symptoms rather than a gene-directed medicine.
Conditions associated with UQCRQ
Gene function
What if the gene works
Your cells need a steady energy supply to keep muscles moving, nerves signaling, and organs working. Inside mitochondria, the UQCRQ gene helps with a key step that turns food and oxygen into usable energy. This is part of how the UQCRQ gene helps mitochondria make energy for everyday cell work.
Inside mitochondria, the UQCRQ gene helps pass electrons (tiny charged particles) through complex III, one of the cell's energy-making protein groups. This keeps the energy pathway moving so cells can continue making fuel.
This step also helps create a difference in charge across the inner mitochondrial membrane, the barrier inside mitochondria. Your cells tap that stored energy to make ATP, the main molecule they use for day-to-day work.
The protein made from the UQCRQ gene forms part of complex III itself. It helps this energy-making unit stay assembled and work smoothly with the other proteins in the chain.
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, including variation 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. In some cases, though, a variant can change the function of a gene more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the UQCRQ gene can weaken or destabilize its protein, making it harder for complex III, a step in the system cells use to make energy, to assemble and work well. This is how UQCRQ gene variants affect function: milder changes may leave some activity, while more severe variants can substantially reduce energy transfer inside cells. When a condition linked to the UQCRQ gene is present, less remaining function often links to earlier onset and broader features.
How variants are linked to conditions
Pathogenic variants in the UQCRQ gene cause a rare inherited condition called mitochondrial complex III deficiency, nuclear type 9. In reports of UQCRQ gene variants linked to mitochondrial complex III deficiency, affected children may have low muscle tone, feeding difficulties, delayed development, and high lactic acid levels, although severity can vary. This is the main well-established health condition associated with the UQCRQ gene.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are widely found in the general population. Most do not have a direct effect on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition suggests a possible link rather than a definite diagnosis, especially when multiple genes and environmental factors play a role. In some situations, though, a single well-characterized variant in a specific gene is 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 UQCRQ gene. For many living with a UQCRQ change, risk depends mainly on the exact genetic change and the health condition linked to it, so personal guidance from a doctor or genetic counselor can help put results in context.
Inheritance of UQCRQ variants
For families asking about UQCRQ gene inheritance, disease causing variants in the UQCRQ gene are inherited in an autosomal recessive pattern. This means a child usually needs to inherit one altered copy from each parent to have a UQCRQ related condition. Parents who each carry one variant are typically unaffected carriers. With each pregnancy, there is a 25% chance the child will inherit both variants, a 50% chance the child will be a carrier, and a 25% chance the child will inherit neither variant.
What does my UQCRQ result mean for my family?
For families with a disease-causing UQCRQ result, this condition is inherited in a recessive pattern. Brothers and sisters may also be affected or may be healthy carriers, so relatives may want to learn whether the same gene change is present in the family. Parents are usually carriers, and children of an affected person will usually be carriers unless the other parent also carries a UQCRQ change.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the UQCRQ gene, genetic testing for UQCRQ variants uses a blood or saliva sample to read the gene's DNA sequence. Results may identify a pathogenic variant, a benign change, or a variant of uncertain significance.
When should I consider getting a genetic test?
Genetic testing for the UQCRQ gene may be considered when a child or adult has signs of a rare inherited condition that affects how the body makes energy, such as early developmental delay, muscle weakness, seizures, or unexplained heart problems. It can also help when a close relative has a confirmed UQCRQ change.
A genetic result is only one part of your health story
Genetic results can provide useful insight, but how much they reveal depends on the condition and the kind of variant involved. Many factors, including lifestyle, environment, age, and medical history, also shape how the body works over time. For some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is best understood together 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 individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same treatment works well for one person, seems less effective for another, or causes more side effects in someone else. Small differences in DNA can change how the body breaks down a drug, moves it through the body, or responds to it at its target, and this kind of variation is common.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in a person’s genes affect their response to medicines. It studies links between genes and drugs to better explain why the same treatment may work differently from one person to another. For many medicines, genes help influence how strongly a drug works or how the body handles it. This information can support treatment decisions that are both more informed and more personalized. More detail on this topic is available in the LearnHub.
Drugs influenced by the UQCRQ gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in how medicines work, so questions about side effects, new symptoms, or changes in treatment are best discussed with your doctor.