| GBA3 — Glucosidase Beta 3 | |
|---|---|
| Symbol | GBA3 |
| Full Name | Glucosidase Beta 3 |
| Chromosome | 7p14.3 |
| NCBI Gene | 56623 |
| Ensembl | ENSG00000128283 |
| OMIM | 610001 |
| UniProt | Q9Y5K5 |
| Diseases | Gaucher Disease, Parkinson's Disease |
| Expression | Liver, Kidney, Brain |
| Key Mutations | |
| E326K (reduced activity) | |
GBA3 (Glucosidase Beta 3) is a gene located on chromosome 7p14.3 that plays a critical role in neurodegenerative disease. Mutations in GBA3 are associated with Gaucher Disease, Parkinson's Disease. The gene is catalogued as NCBI Gene ID 56623 and OMIM 610001.
The GBA3 gene encodes a protein that is expressed in multiple brain regions including Liver, Kidney, Brain. The normal function of this gene product is essential for neuronal health and survival.
Expression data is available from the Allen Human Brain Atlas.
GBA3 mutations are linked to the following neurodegenerative conditions:
Page auto-generated from NeuroWiki gene database. Last updated: 2026-02-26.