GBA1
Universal Cellular Machinery · Autophagy & Lysosomal Degradation
Why does a report sometimes use GBA and sometimes GBA1?
GBA1 is the current symbol for the gene historically called GBA, which makes a lysosomal enzyme that breaks down selected fatty substances. Keeping the identity clear prevents its evidence from being confused with similarly named genes such as GBA3.
- Common Gene Name
- glucosylceramidase beta 1
- Previous symbol
- GBA
- NCBI Gene ID
- 2629
- Chromosome
- 1
Clinical Evidence Status
Actionability report availableEstablished disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (5 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| Parkinson disease | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2022-05-03 |
| Gaucher disease | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2020-06-24 |
| Dementia with Lewy bodies | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2018-10 | |
| Gaucher Disease | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2023-12-21 |
| Gaucher Disease | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2023-12-21 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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