Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2629
MIM: 606463
HGNC: 4177
Ensembl: ENSG00000177628
Variants:
dbSNP: 2629
ClinVar: 2629
TCGA: ENSG00000177628
COSMIC: GBA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166115366 | velaglucerase alfa | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37563866 | 2024 | Comparing the effects of GBA variants and onset age on clinical features and progression in Parkinson's disease. | 3 |
| 37921246 | 2024 | Frequency of Hereditary and GBA1-Related Parkinsonism in Latin America: A Systematic Review and Meta-Analysis. | 1 |
| 38124431 | 2024 | Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort. | 0 |
| 38287861 | 2024 | The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene. | 0 |
| 38306061 | 2024 | The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation. | 0 |
| 38390630 | 2024 | GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians. | 1 |
| 38460098 | 2024 | DJ-1 protects cell death from a mitochondrial oxidative stress due to GBA1 deficiency. | 2 |
| 38542193 | 2024 | Peripheral Upregulation of Parkinson's Disease-Associated Genes Encoding α-Synuclein, β-Glucocerebrosidase, and Ceramide Glucosyltransferase in Major Depression. | 0 |
| 38575988 | 2024 | GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease. | 0 |
| 38581586 | 2024 | Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases. | 0 |
| 37563866 | 2024 | Comparing the effects of GBA variants and onset age on clinical features and progression in Parkinson's disease. | 3 |
| 37921246 | 2024 | Frequency of Hereditary and GBA1-Related Parkinsonism in Latin America: A Systematic Review and Meta-Analysis. | 1 |
| 38124431 | 2024 | Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort. | 0 |
| 38287861 | 2024 | The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene. | 0 |
| 38306061 | 2024 | The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation. | 0 |
Citation
Dessen P
GBA (glucosylceramidase beta)
Atlas Genet Cytogenet Oncol Haematol. 2009-05-01
Online version: http://atlasgeneticsoncology.org/gene/50901/gba
