The UQCRC2 gene helps your cells make energy inside mitochondria, the parts of cells often called their power centers. Every cell in your body uses this gene to support organs with high energy needs, especially the brain, muscles, and liver. If a person inherits nonworking copies of the UQCRC2 gene, they can develop a rare mitochondrial condition that may cause poor growth, low muscle tone, developmental delay, seizures, high lactic acid levels, or liver problems.
What is a gene?
Genes are stretches of DNA that hold information your cells use to make molecules or regulate processes in the body. Some genes provide the instructions for building proteins, which are the working parts of cells. Others mainly control when certain processes occur, where they occur, and how active they are. Taken together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
UQCRC2Gene function
What if the gene works
The UQCRC2 gene helps mitochondria, your cells’ energy centers, make energy from food. This supports tissues with high energy needs, including the brain, muscles, and liver.
Risk
What if the gene does not work
More disruptive variants in the UQCRC2 gene can cause an inherited energy production condition, often beginning in infancy with high lactic acid levels, low blood sugar, and developmental delay. Milder variants may lead to later, less severe features.
Treatment
What does that mean for your treatment
No UQCRC2-specific treatment or drug selection strategy is currently established. Research on the UQCRC2 gene is focused on understanding mitochondrial complex III failure and exploring future targeted approaches, but these are not part of routine care.
Conditions associated with UQCRC2
Gene function
What if the gene works
Much of your daily energy supply depends on mitochondria, the parts of cells that act as power stations. The UQCRC2 gene helps mitochondria make energy by supporting one step in this process. When it works as expected, cells can turn fuel from food into usable energy in a steady way.
A protein made from the UQCRC2 gene forms part of complex III in the mitochondrial energy chain. This lets electrons move from one carrier to the next, a key step in steady energy production.
As electrons move through complex III, mitochondria build up a tiny electrical charge. Your cells use that charge to make ATP, the main molecule they use for energy.
The protein from the UQCRC2 gene is one of the core pieces that helps complex III stay organized. This supports smooth teamwork within the larger mitochondrial energy system.
What is a variant?
Within a gene, a genetic variant is a small difference in the DNA sequence. These differences are common and help explain normal human diversity, including variation in appearance, metabolism, and the way the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some situations, though, a variant changes how a gene works more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the UQCRC2 gene can make the protein unstable or prevent it from fitting into mitochondrial complex III (part of the cell's energy-making machinery). Some are milder and leave partial function, while more disruptive variants can greatly reduce complex assembly and energy production. That range helps explain how UQCRC2 gene variants affect function and why lower residual activity is often linked to earlier or more pronounced mitochondrial disease.
How variants are linked to conditions
Pathogenic variants in the UQCRC2 gene cause mitochondrial complex III deficiency, nuclear type 5, a rare inherited condition that often starts in infancy or childhood. This UQCRC2 gene condition has been linked to low blood sugar, high lactic acid levels, poor growth, developmental delay, and episodes of liver problems or metabolic illness. Effects can vary from person to person, even within the same family.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are widely found in the general population. Most have no 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 more than one gene and environmental factors also play a role. In some cases, 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 UQCRC2 gene. In families with a disease-causing change, risk is mainly shaped by whether a child inherits altered copies from both parents, and a genetics specialist can help explain personal and family risk.
Inheritance of UQCRC2 variants
UQCRC2-related conditions are inherited in an autosomal recessive pattern. This means a person usually develops the condition only when they inherit two altered copies of the UQCRC2 gene, one from each parent. Parents who each carry one variant are typically unaffected carriers, and with each pregnancy they have a 25% chance of having an affected child, a 50% chance of having a carrier child, and a 25% chance of having a child with neither familial variant. In families asking how UQCRC2 variants are inherited, this pattern is the key point.
What does my UQCRC2 result mean for my family?
Changes in the UQCRC2 gene are linked to a rare inherited condition that usually runs in families in a recessive pattern. For family members, this often means parents may be healthy carriers, and brothers or sisters could also be affected or be carriers. More distant relatives may also carry the same gene change, especially on the same side of the family.
Genetic information
Genetic testing
How you find out about variants
To look for changes in the UQCRC2 gene, doctors use UQCRC2 genetic testing on a blood sample, saliva sample, or sometimes a cheek swab. The lab reads the gene's DNA sequence to check for variants. Results can help confirm whether an inherited condition is linked to UQCRC2 and may also clarify whether family members carry the same variant.
When should I consider getting a genetic test?
Genetic testing that includes the UQCRC2 gene may be considered if a baby or child has signs of a rare inherited energy condition, such as low muscle tone, developmental delay, seizures, poor growth, or repeated episodes of too much lactic acid in the blood. It can also help when there is a known UQCRC2 change in the family or a child with a confirmed related condition.
A genetic result is only one part of your health story
Genetic test results can be informative, but how much they reveal varies by the condition and the type of variant involved. Over time, factors such as lifestyle, environment, age, and medical history also shape how the body works. In some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best considered alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas like medication response, these 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. Small differences in genes can change how the body breaks down a drug, moves it into tissues, or responds to its effects. This helps explain why the same treatment works well for one person, seems weaker for another, or causes more side effects in someone else.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can shape a person’s response to medications. By looking at connections between genes and drugs, it helps explain why the same treatment can work differently from one person to another. For many medicines, genes can affect both how the body processes a drug and how strong its effects are. This information can help support treatment decisions that are more informed and more individualized. More about this topic is available in the LearnHub.
Drugs influenced by the UQCRC2 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choices, so questions about side effects, new symptoms, or how your medicines fit with your overall health are best discussed with your doctor.