GENE REFERENCE / HGNC:4177

GBA1

glucosylceramidase beta 1

protein-coding gene1q22Gene information

What does this gene do?

The GBA1 gene provides instructions for making an enzyme called lysosomal acid glucosylceramidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Lysosomes use digestive enzymes to break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components. Based on these functions, enzymes in the lysosome are sometimes called housekeeping enzymes. Lysosomal acid glucosylceramidase is a housekeeping enzyme that helps break down a large molecule called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Glucocerebroside is a component of the membrane that surrounds cells. It gets broken down by lysosomal acid glucosylceramidase when cells die, and the components are reused as new cells are formed.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-04-03. Source review: 2018-10.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Parkinson diseaseMONDO:0005180 · Evaluated 2022-05-03	Autosomal dominant	DefinitiveParkinson's Disease Gene Curation Expert Panel
Gaucher diseaseMONDO:0018150 · Evaluated 2020-06-24	Autosomal recessive	DefinitiveGeneral Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 811
Submissions for variants in or overlapping this gene: 1,910
Submissions explicitly reporting this gene: 1,858
Alleles reported pathogenic / likely pathogenic: 375
VariationIDs with uncertain significance: 273
VariationIDs with conflicting classifications: 69

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about GBA1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 375 alleles in GBA1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in GBA1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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