ATP7B Gene and Wilson Disease: Mutations and Clinical Trials
The ATP7B gene sits on chromosome 13q14.3, and its full name is ATPase copper transporting beta. Orphanet links ATP7B to 1 rare condition, Wilson disease, and lists variants in the gene as its cause. Trial Friend's Wilson Disease page lists ATP7B among the genes behind the condition. As of September 29, 2026, 7 recruiting or soon-opening trials on ClinicalTrials.gov name ATP7B as a gene.
What the ATP7B gene does
ATP7B makes a copper-carrying protein that works mainly in the liver. It hands copper to ceruloplasmin, the protein that carries copper through the blood, and helps the body get rid of extra copper.
Summarized from the ATP7B page on MedlinePlus Genetics, U.S. National Library of Medicine, checked September 29, 2026.
ATP7B and Wilson Disease
These condition pages list ATP7B among the genes behind the condition, checked against genetics references when each page was written.
The condition usually appears only when both copies of the gene carry a disease-causing variant. One variant alone usually means a person is a carrier.
All cases are biallelic ATP7B variants; a common PRNP polymorphism may modify age of onset but is not diagnostic.
ATP7B mutation clinical trials
These recruiting or soon-opening trials mention ATP7B as a gene in their title, summary, eligibility rules or keywords. Some want people with a variant in it, and others study it more broadly, which is why each trial's own words are shown. In cancer trials the gene change is usually one found in the tumor rather than one a person inherited.
7 trials, checked September 29, 2026. The list refreshes from ClinicalTrials.gov every few hours.
All conditions linked to ATP7B gene mutations
Orphanet records how each gene relates to each condition. Orphanet links ATP7B to 1 rare condition, Wilson disease, and lists variants in the gene as its cause.
- Causes it. Disease-causing variants in this gene are a direct cause of the condition.
ATP7B genetic test results and what a variant can mean
Labs sort each variant they find into 5 groups, from pathogenic and likely pathogenic through uncertain significance to likely benign and benign. Only the first 2 are usually treated as the cause of a condition. A variant of uncertain significance, or VUS, is one without enough evidence either way yet, and labs can reclassify it as research builds.
A genetic counselor or your doctor can explain what a specific result means for you and your family. Our genetic testing guide covers the terms, and MedlinePlus Genetics from the National Library of Medicine has a plain-language page on ATP7B.
ATP7B gene questions
What does the ATP7B gene do?
ATP7B makes a copper-carrying protein that works mainly in the liver. It hands copper to ceruloplasmin, the protein that carries copper through the blood, and helps the body get rid of extra copper. This summary follows MedlinePlus Genetics from the U.S. National Library of Medicine.
Are there clinical trials for people with ATP7B gene variants?
As of September 29, 2026, 7 recruiting or soon-opening trials on ClinicalTrials.gov name ATP7B as a gene. Each one is listed on this page with the words from the trial that mention the gene. ClinicalTrials.gov also lists 29 open trials for Wilson Disease, and Match Me on Trial Friend can check those against age, sex, location and treatment history.
What conditions are linked to the ATP7B gene?
Orphanet links ATP7B to 1 rare condition, Wilson disease, and lists variants in the gene as its cause. Orphanet is the European rare disease database run by INSERM in Paris.
How is Wilson Disease inherited?
The inheritance pattern is autosomal recessive. The condition usually appears only when both copies of the gene carry a disease-causing variant. One variant alone usually means a person is a carrier. All cases are biallelic ATP7B variants; a common PRNP polymorphism may modify age of onset but is not diagnostic.
What does an ATP7B variant of uncertain significance mean?
A variant of uncertain significance, or VUS, is a change in the gene that labs don't yet have enough evidence to call disease-causing or harmless. It is not used on its own to diagnose a condition, and labs can reclassify it as research builds. A genetic counselor can explain what a specific result means for you and your family.
Sources
- Gene and condition links from Orphadata (Orphanet, INSERM US14), used under CC BY 4.0, read September 29, 2026.
- Trials from ClinicalTrials.gov, read September 29, 2026.
- ATP7B gene, MedlinePlus Genetics, U.S. National Library of Medicine.
- Inheritance and gene notes from the Trial Friend condition pages above, each checked against genetics references.
Other gene pages
The gene search covers every gene Orphanet links to a rare disease.