Gene · 2548
GAA: alpha glucosidase
12 sourcesgene-search-2026-11-11-0.2.0
Cite this record
ConductScience Library. GAA: alpha glucosidase. Genes, record 2548. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/2548
On this page
Gene
Proteins1
Reviewed human proteins whose Swiss-Prot entry states the gene.
| UniProt entry | Protein | Length | Structures | Gene stated in |
|---|---|---|---|---|
| P10253 | Lysosomal alpha-glucosidase | 952 | 19 | Ensembl, GeneID, HGNC |
Source UniProt
Patents227
Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.
| Publication | Published | SEQ ID NO | Protein | Source |
|---|---|---|---|---|
| EP 4825442 A2 | 2026-10-21 | 4 | P10253 | Espacenet |
| WO 2026215134 A1 | 2026-10-15 | 62 | P10253 | Espacenet |
| EP 4780973 A1 | 2026-07-29 | 312 | P10253 | Espacenet |
| JP 2026067851 A | 2026-04-21 | 268 | P10253 | Espacenet |
| EP 4704920 A1 | 2026-03-11 | 8 | P10253 | Espacenet |
| JP 2026031545 A | 2026-02-24 | 2 | P10253 | Espacenet |
| JP 2026021331 A | 2026-02-10 | 1 | P10253 | Espacenet |
| JP 2026009338 A | 2026-01-19 | 2 | P10253 | Espacenet |
| EP 4650780 A2 | 2025-11-19 | 4362 | P10253 | Espacenet |
| JP 2025169942 A | 2025-11-14 | 1014 | P10253 | Espacenet |
1 to 10 of 227
See all 227 patentsDrugs5
Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.
| Drug | ChEMBL ID | Mechanism | Action | Source |
|---|---|---|---|---|
| CELGOSIVIR | CHEMBL2110737 | Alpha glucosidase inhibitor | INHIBITOR | ChEMBL |
| DUVOGLUSTAT | CHEMBL307429 | Lysosomal alpha-glucosidase stabiliser | STABILISER | ChEMBL |
| DUVOGLUSTAT HYDROCHLORIDE | CHEMBL460785 | Lysosomal alpha-glucosidase stabiliser | STABILISER | ChEMBL |
| MIGLITOL | CHEMBL1561 | Lysosomal alpha-glucosidase inhibitor | INHIBITOR | ChEMBL |
| VOGLIBOSE | CHEMBL476960 | Alpha glucosidase inhibitor | INHIBITOR | ChEMBL |
Trials27
Trials of those drugs. A trial joins the gene only through a drug that acts on it.
| Trial | Drug | Phase | Results first posted | Source |
|---|---|---|---|---|
| NCT05688332 | VOGLIBOSE | PHASE3 | ClinicalTrials.gov | |
| NCT02569827 | CELGOSIVIR | PHASE1/PHASE2 | ClinicalTrials.gov | |
| NCT02097342 | VOGLIBOSE | PHASE4 | ClinicalTrials.gov | |
| NCT02049814 | VOGLIBOSE | PHASE4 | 2019-02-04 | ClinicalTrials.gov |
| NCT01619969 | CELGOSIVIR | PHASE1/PHASE2 | ClinicalTrials.gov | |
| NCT01380743 | DUVOGLUSTAT HYDROCHLORIDE | PHASE2 | 2018-08-17 | ClinicalTrials.gov |
| NCT01309698 | VOGLIBOSE | PHASE4 | ClinicalTrials.gov | |
| NCT01263509 | VOGLIBOSE | PHASE2/PHASE3 | 2011-08-29 | ClinicalTrials.gov |
| NCT01263496 | VOGLIBOSE | PHASE2 | 2011-07-07 | ClinicalTrials.gov |
| NCT01263483 | VOGLIBOSE | PHASE2/PHASE3 | 2011-07-11 | ClinicalTrials.gov |
1 to 10 of 27
See all 27 trialsNIH grants995
NIH grants whose papers are about the gene, through NIH's grant-paper links.
| Grant | Title | GAA papers | Newest fiscal year |
|---|---|---|---|
| R01DK067859 | Development of Assays for Newborn Screening and for Post-Screening Evaluation of Disease Severity | 15 | 2025 |
| ZICAR041186 | NIAMS Light Imaging Facility | 12 | 2025 |
| T32HD043730 | Fuller T32 renewal | 8 | 2025 |
| ZIAHL000140 | Lysosomal Diseases | 8 | 2025 |
| ZIAHG200336 | Genetic and clinical studies of Gaucher disease and other lysosomal disorders | 6 | 2025 |
| R35GM130322 | Mechanisms of Genome Instability Mediated by Simple DNA Repeats | 4 | 2025 |
| UL1TR001878 | Institutional Clinical and Translational Science Award | 4 | 2025 |
| P30CA014520 | UW Comprehensive Cancer Center Support | 3 | 2025 |
| P30ES013508 | Center of Excellence in Environmental Toxicology | 3 | 2025 |
| R01DK032083 | Multiple Autoantigens, Multiple Epitopes of Type 1 Diabetes | 3 | 2025 |
1 to 10 of 995Source NIH's project files
See all 995 nih grantsPapers2,709
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Identification of novel and known variants in GAA, MYH6, NEXN, ATA3A, RHBDF1, and ACTA1 genes in coronary artery disease patients by Whole-exome sequencing. | Front Cardiovasc Med | 2026 | 42760933 | PubTator, text mining | PubMed |
| Screening for potential late-onset Pompe disease patients among individuals with suspected sleep apnea: A prospective, multicenter observational Cohort Study in Japan (PSSAP-J Study). | Sleep Breath | 2026 | 42745077 | PubTator, text mining | PubMed |
| Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease. | Neurol Genet | 2026 | 42701350 | PubTator, text mining | PubMed |
| Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina. | Mol Genet Metab | 2026 | 42691781 | PubTator, text mining | PubMed |
| Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay. | Mol Genet Metab | 2026 | 42679457 | PubTator, text mining | PubMed |
| Multi-omics analysis identifies GAA as an independent poor prognostic biomarker and candidate therapeutic target in angioimmunoblastic T-cell lymphoma. | Front Immunol | 2026 | 42643572 | PubTator, text mining | PubMed |
| AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease. | EClinicalMedicine | 2026 | 42541184 | PubTator, text mining | PubMed |
| Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement. | Orphanet J Rare Dis | 2026 | 42538546 | PubTator, text mining | PubMed |
| A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies. | Int J Mol Sci | 2026 | 42449999 | PubTator, text mining | PubMed |
| Phytochemical profiling, network pharmacology, and molecular dynamics simulations of Sinularia levi metabolites as potential α-glucosidase inhibitors in metabolic syndrome. | RSC Adv | 2026 | 42444678 | PubTator, text mining | PubMed |
1 to 10 of 2,709
See all 2,709 papersSources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this gene from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/genes/v1/2548
GET https://conductscience.org/api/genes/v1/2548/patents?page=2