Gene
gba1
- ID
- ZDB-GENE-100922-270
- Name
- glucosylceramidase beta 1
- Symbol
- gba1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Exhibits glucosylceramidase activity. Involved in neuron cellular homeostasis; regulation of ossification; and swimming. Used to study Gaucher's disease. Human ortholog(s) of this gene implicated in Gaucher's disease (multiple); Lewy body dementia; and Parkinson's disease (multiple). Is expressed in brain; fin; and liver. Orthologous to human GBA (glucosylceramidase beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 33 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Gaucher's disease perinatal lethal | Alliance | Gaucher disease, perinatal lethal | 608013 |
| Gaucher's disease type I | Alliance | Gaucher disease, type I | 230800 |
| Gaucher's disease type II | Alliance | Gaucher disease, type II | 230900 |
| Gaucher's disease type III | Alliance | Gaucher disease, type III | 231000 |
| Gaucher's disease type IIIC | Alliance | Gaucher disease, type IIIC | 231005 |
| late onset Parkinson's disease | Alliance | {Parkinson disease, late-onset, susceptibility to} | 168600 |
| Lewy body dementia | Alliance | {Lewy body dementia, susceptibility to} | 127750 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Glycoside hydrolase family 30 | Glycoside hydrolase superfamily | Glycosyl hydrolase family 30, beta sandwich domain | Glycosyl hydrolase family 30, TIM-barrel domain |
|---|---|---|---|---|---|
|
UniProtKB:E7EZM1
|
518 |
Interactions and Pathways
No data available
Plasmids
No data available