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: 2548
MIM: 606800
HGNC: 4065
Ensembl: ENSG00000171298
Variants:
dbSNP: 2548
ClinVar: 2548
TCGA: ENSG00000171298
COSMIC: GAA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38614290 | 2024 | Human fecal alpha-glucosidase activity and its relationship with gut microbiota profiles and early stages of intestinal mucosa damage. | 0 |
| 38614290 | 2024 | Human fecal alpha-glucosidase activity and its relationship with gut microbiota profiles and early stages of intestinal mucosa damage. | 0 |
| 36805083 | 2023 | Phase I study of liver depot gene therapy in late-onset Pompe disease. | 6 |
| 37470282 | 2023 | Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B). | 10 |
| 37542277 | 2023 | Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants. | 1 |
| 36805083 | 2023 | Phase I study of liver depot gene therapy in late-onset Pompe disease. | 6 |
| 37470282 | 2023 | Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B). | 10 |
| 37542277 | 2023 | Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants. | 1 |
| 34530085 | 2022 | Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants. | 1 |
| 34864681 | 2022 | Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes. | 2 |
| 36517654 | 2022 | CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease. | 3 |
| 34530085 | 2022 | Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants. | 1 |
| 34864681 | 2022 | Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes. | 2 |
| 36517654 | 2022 | CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease. | 3 |
| 32718219 | 2021 | In silico assessment of potential leads identified from Bauhinia rufescens Lam. as α-glucosidase and α-amylase inhibitors. | 4 |
Citation
Dessen P
GAA (alpha glucosidase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63640/gaa-(alpha-glucosidase)
