The SERPINB7 gene helps protect the outer layer of the skin, especially on the hands and feet, from stress such as friction and moisture. If this gene does not work properly, people may develop a condition called Nagashima-type palmoplantar keratoderma, which causes thickened, red, sweaty skin on the palms and soles and can spread onto nearby skin. It is mainly known in medical genetics rather than popular culture.
What is a gene?
A gene is a piece of DNA that carries information your cells can use to make molecules or manage processes in the body. Some genes hold the information needed to produce proteins, the working parts of cells. Others mainly control when certain processes happen, where they happen, and how active they are. Together, genes affect how the body develops and functions, and they can influence how you respond to food, stress, or medications. For a deeper look at this topic, you can learn more in the LearnHub.
Overview
SERPINB7Gene function
What if the gene works
The SERPINB7 gene helps protect the outer skin by controlling enzymes that break down proteins. This supports a stronger skin barrier, especially in areas under friction like the palms and soles.
Risk
What if the gene does not work
If both copies of the SERPINB7 gene do not work properly, Nagashima-type palmoplantar keratosis can cause thickened, reddish skin on the palms and soles. Milder or more severe variants may affect when it starts and how much skin is involved.
Treatment
What does that mean for your treatment
No SERPINB7-specific treatment or drug-selection approach is currently established for pathogenic or loss-of-function variants in the SERPINB7 gene. Care is usually based on skin symptoms, with symptom-relieving treatments chosen by severity rather than by the exact variant.
Conditions associated with SERPINB7
Gene function
What if the gene works
Your outer skin is constantly dealing with friction, pressure, and moisture. The SERPINB7 gene helps skin cells stay balanced during this everyday wear. It does this by making a protein that keeps certain protein-cutting enzymes under control. This supports the strength and stability of the skin's surface.
Inside skin cells, the SERPINB7 gene helps keep certain protein-cutting enzymes under control. This helps normal protein turnover stay balanced in the outer layers of the skin.
As skin cells mature, this gene supports the organized build-up of the skin's surface. This is part of the SERPINB7 gene's role in skin barrier function during daily rubbing and moisture exposure.
Its protein is especially active in skin that handles repeated pressure, such as the palms and soles. In these areas, steady enzyme control helps the outer layer stay stable during everyday contact.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These differences are common and help make up normal human diversity, such as variations in appearance, metabolism, or how the body responds to environmental influences. Many have no noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can change how a gene functions more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Many variants in the SERPINB7 gene make the protein shorter, unstable, or folded the wrong way, so it is broken down inside cells or cannot block target enzymes effectively. This explains how SERPINB7 variants affect protein function. Some changes leave a small amount of activity, while more disruptive variants can remove it almost completely, which may influence how early or how noticeably Nagashima-type palmoplantar keratosis appears.
How variants are linked to conditions
Pathogenic variants in the SERPINB7 gene cause Nagashima type palmoplantar keratosis, a hereditary skin condition with thickened, red skin on the palms and soles. In many people, the changes can extend to the backs of the hands and feet, and the skin may look white and swollen after water exposure. This SERPINB7 gene skin condition is typically confirmed when disease-causing variants are found in both copies of the 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 instead 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 several genes and environmental factors also contribute. 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?
For SERPINB7, the main risk comes from genetics: the condition usually happens only when a child inherits two changed copies, one from each parent. It is seen more often in some East Asian populations because carrier changes are more common there. Heat, sweating, and friction can make skin symptoms more noticeable, but they do not change the underlying genetic chance.
Inheritance of SERPINB7 variants
Variants in the SERPINB7 gene linked to SERPINB7-related palmoplantar keratosis follow an autosomal recessive inheritance pattern. This means a person usually inherits one changed copy of the SERPINB7 gene from each parent, and parents who each carry one variant typically have a 25% chance with each pregnancy of having an affected child. In practical terms, the SERPINB7 inheritance pattern also means sons and daughters are affected at similar rates because this gene is on chromosome 18, not a sex chromosome.
What does my SERPINB7 result mean for my family?
SERPINB7 changes linked to a recognized skin condition usually follow a recessive pattern, which means close relatives may also carry the gene change even if they do not have symptoms. Brothers and sisters can sometimes be affected or be carriers. For family members planning children, carrier testing may be relevant because two carriers can pass the condition on to a child.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for SERPINB7 variants usually uses a blood or saliva sample. A lab reads the SERPINB7 gene’s DNA to look for changes linked to Nagashima palmoplantar keratosis, a skin condition affecting the palms and soles. Results can show whether you carry one variant, two variants, or no relevant variant.
When should I consider getting a genetic test?
Consider genetic testing if you or your child has lifelong thick, red, sometimes sweaty skin on the palms and soles that may fit an inherited skin condition called Nagashima-type palmoplantar keratosis, especially if it runs in the family. Testing can confirm whether changes in the SERPINB7 gene are the cause and can also help with family planning when a family variant is already known.
A genetic result is only one part of your health story
Genetic test results can provide useful insight, but how much they explain depends on the condition and the kind of variant involved. How your body works over time is also shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, especially those influenced by many genes, genetic information adds 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 such as medication response, these results can also help make sense of individual experiences.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Some people break down a drug more slowly or more quickly, while others may be more or less sensitive to its effects. This common variation can influence how well a treatment works and the chance of side effects.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genes affect the way people respond to medicines. It focuses on gene-drug patterns to clarify why the same treatment can work differently from one person to another. For many drugs, genes influence both how strong a medicine’s effects are and how the body processes it. This information can support more informed, individualized treatment choices. More detail on this topic is available in the LearnHub.
Drugs influenced by the SERPINB7 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. If you have concerns about a medication, new side effects, or whether a treatment is helping, speak with your doctor or pharmacist.