GBA1 Gene and Gaucher Disease: Mutations and Clinical Trials
The GBA1 gene sits on chromosome 1q22, and its full name is glucosylceramidase beta 1. Older reports may call it GBA. Orphanet links GBA1 to 6 rare conditions and lists variants in the gene as a cause of 5 of them. Trial Friend's Gaucher Disease page lists GBA1 among the genes behind the condition. As of September 29, 2026, 9 recruiting or soon-opening trials on ClinicalTrials.gov name GBA1 as a gene.
What the GBA1 gene does
GBA1 makes an enzyme that works inside lysosomes, the cell's recycling centers. It breaks down a fatty molecule called glucocerebroside into glucose and ceramide so the parts can be reused.
Summarized from the GBA1 page on MedlinePlus Genetics, U.S. National Library of Medicine, checked September 29, 2026.
GBA1 and Gaucher Disease
These condition pages list GBA1 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 types (1, 2, 3) are caused by biallelic GBA1 variants; enzyme assay plus GBA1 sequencing confirms the diagnosis.
GBA1 mutation clinical trials
These recruiting or soon-opening trials mention GBA1 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.
9 trials, checked September 29, 2026. The list refreshes from ClinicalTrials.gov every few hours.
All conditions linked to GBA1 gene mutations
Orphanet records how each gene relates to each condition. Orphanet links GBA1 to 6 rare conditions and lists variants in the gene as a cause of 5 of them.
- Causes it. Disease-causing variants in this gene are a direct cause of the condition.
- Raises risk. Some variants raise the chance of the condition without guaranteeing it.
GBA1 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 GBA1.
GBA1 gene questions
What does the GBA1 gene do?
GBA1 makes an enzyme that works inside lysosomes, the cell's recycling centers. It breaks down a fatty molecule called glucocerebroside into glucose and ceramide so the parts can be reused. This summary follows MedlinePlus Genetics from the U.S. National Library of Medicine.
Are there clinical trials for people with GBA1 gene variants?
As of September 29, 2026, 9 recruiting or soon-opening trials on ClinicalTrials.gov name GBA1 as a gene. Each one is listed on this page with the words from the trial that mention the gene. ClinicalTrials.gov also lists 31 open trials for Gaucher Disease, and Match Me on Trial Friend can check those against age, sex, location and treatment history.
What conditions are linked to the GBA1 gene?
Orphanet links GBA1 to 6 rare conditions and lists variants in the gene as a cause of 5 of them. They include Fetal Gaucher disease, Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome and Hereditary late-onset Parkinson disease. Orphanet is the European rare disease database run by INSERM in Paris.
How is Gaucher 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 types (1, 2, 3) are caused by biallelic GBA1 variants; enzyme assay plus GBA1 sequencing confirms the diagnosis.
What does a GBA1 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.
- GBA1 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.