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: 2717
MIM: 300644
HGNC: 4296
Ensembl: ENSG00000102393
Variants:
dbSNP: 2717
ClinVar: 2717
TCGA: ENSG00000102393
COSMIC: GLA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162375571 | ACTC1 | Gene | DataAnnotation | associated | |||
| PA166182881 | migalastat | Chemical | ClinicalAnnotation, LabelAnnotation | associated | PD | ||
| PA231 | LMNA | Gene | DataAnnotation | associated | |||
| PA31351 | MYBPC3 | Gene | DataAnnotation | associated | |||
| PA31374 | MYH7 | Gene | DataAnnotation | associated | |||
| PA31380 | MYL2 | Gene | DataAnnotation | associated | |||
| PA31381 | MYL3 | Gene | DataAnnotation | associated | |||
| PA33752 | PRKAG2 | Gene | DataAnnotation | associated | |||
| PA36636 | TNNI3 | Gene | DataAnnotation | associated | |||
| PA36638 | TNNT2 | Gene | DataAnnotation | associated | |||
| PA36690 | TPM1 | Gene | DataAnnotation | associated | |||
| PA443367 | Fabry Disease | Disease | ClinicalAnnotation | associated | PD | ||
| PA443632 | Cardiomyopathy, Dilated | Disease | DataAnnotation | associated | |||
| PA443633 | Cardiomyopathy, Hypertrophic | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38295534 | 2024 | Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry. | 1 |
| 38474401 | 2024 | GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease. | 0 |
| 38295534 | 2024 | Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry. | 1 |
| 38474401 | 2024 | GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease. | 0 |
| 36094773 | 2023 | Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype? | 1 |
| 36334502 | 2023 | A theoretical study on binding and stabilization of galactose and novel galactose analogues to the human α-galactosidase A variant causing Fabry disease. | 0 |
| 36420638 | 2023 | Asn215Ser, Ala143Thr, and Arg112Cys variants in α-galactosidase A protein confer stability loss in Fabry's disease. | 1 |
| 36517364 | 2023 | D313Y variant in two related end-stage renal disease patients - Pathogenic or not yet? | 0 |
| 36927868 | 2023 | Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation. | 1 |
| 37097439 | 2023 | Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families. | 2 |
| 37254000 | 2023 | All reported non-canonical splice site variants in GLA cause aberrant splicing. | 1 |
| 37496179 | 2023 | Enzymatic properties and clinical associations of serum alpha-galactosidase A in Parkinson's disease. | 0 |
| 37774431 | 2023 | c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease. | 1 |
| 38047356 | 2023 | Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies. | 0 |
| 36094773 | 2023 | Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype? | 1 |
Citation
Dessen P
GLA (galactosidase alpha)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56112/gla-(galactosidase-alpha)
