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Gene · 2548

GAA: alpha glucosidase

12 sourcesgene-search-2026-11-11-0.2.0

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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

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Gene

Symbol
GAA
HGNC
Name
alpha glucosidase
HGNC
NCBI Gene ID
2548
NCBI Gene
HGNC ID
HGNC:4065
HGNC
Ensembl
ENSG00000171298
NCBI Gene
Aliases
IOPD, LOPD, LYAG
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
P10253Lysosomal alpha-glucosidase95219Ensembl, GeneID, HGNC

Source UniProt

Patents227

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
EP 4825442 A22026-10-214P10253Espacenet
WO 2026215134 A12026-10-1562P10253Espacenet
EP 4780973 A12026-07-29312P10253Espacenet
JP 2026067851 A2026-04-21268P10253Espacenet
EP 4704920 A12026-03-118P10253Espacenet
JP 2026031545 A2026-02-242P10253Espacenet
JP 2026021331 A2026-02-101P10253Espacenet
JP 2026009338 A2026-01-192P10253Espacenet
EP 4650780 A22025-11-194362P10253Espacenet
JP 2025169942 A2025-11-141014P10253Espacenet

1 to 10 of 227

See all 227 patents

Drugs5

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

DrugChEMBL IDMechanismActionSource
CELGOSIVIRCHEMBL2110737Alpha glucosidase inhibitorINHIBITORChEMBL
DUVOGLUSTATCHEMBL307429Lysosomal alpha-glucosidase stabiliserSTABILISERChEMBL
DUVOGLUSTAT HYDROCHLORIDECHEMBL460785Lysosomal alpha-glucosidase stabiliserSTABILISERChEMBL
MIGLITOLCHEMBL1561Lysosomal alpha-glucosidase inhibitorINHIBITORChEMBL
VOGLIBOSECHEMBL476960Alpha glucosidase inhibitorINHIBITORChEMBL

Trials27

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

TrialDrugPhaseResults first postedSource
NCT05688332VOGLIBOSEPHASE3ClinicalTrials.gov
NCT02569827CELGOSIVIRPHASE1/PHASE2ClinicalTrials.gov
NCT02097342VOGLIBOSEPHASE4ClinicalTrials.gov
NCT02049814VOGLIBOSEPHASE42019-02-04ClinicalTrials.gov
NCT01619969CELGOSIVIRPHASE1/PHASE2ClinicalTrials.gov
NCT01380743DUVOGLUSTAT HYDROCHLORIDEPHASE22018-08-17ClinicalTrials.gov
NCT01309698VOGLIBOSEPHASE4ClinicalTrials.gov
NCT01263509VOGLIBOSEPHASE2/PHASE32011-08-29ClinicalTrials.gov
NCT01263496VOGLIBOSEPHASE22011-07-07ClinicalTrials.gov
NCT01263483VOGLIBOSEPHASE2/PHASE32011-07-11ClinicalTrials.gov

1 to 10 of 27

See all 27 trials

NIH grants995

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleGAA papersNewest fiscal year
R01DK067859Development of Assays for Newborn Screening and for Post-Screening Evaluation of Disease Severity152025
ZICAR041186NIAMS Light Imaging Facility122025
T32HD043730Fuller T32 renewal82025
ZIAHL000140Lysosomal Diseases82025
ZIAHG200336Genetic and clinical studies of Gaucher disease and other lysosomal disorders62025
R35GM130322Mechanisms of Genome Instability Mediated by Simple DNA Repeats42025
UL1TR001878Institutional Clinical and Translational Science Award42025
P30CA014520UW Comprehensive Cancer Center Support32025
P30ES013508Center of Excellence in Environmental Toxicology32025
R01DK032083Multiple Autoantigens, Multiple Epitopes of Type 1 Diabetes32025

1 to 10 of 995Source NIH's project files

See all 995 nih grants

Papers2,709

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
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 Med202642760933PubTator, text miningPubMed
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 Breath202642745077PubTator, text miningPubMed
Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.Neurol Genet202642701350PubTator, text miningPubMed
Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina.Mol Genet Metab202642691781PubTator, text miningPubMed
Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay.Mol Genet Metab202642679457PubTator, text miningPubMed
Multi-omics analysis identifies GAA as an independent poor prognostic biomarker and candidate therapeutic target in angioimmunoblastic T-cell lymphoma.Front Immunol202642643572PubTator, text miningPubMed
AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease.EClinicalMedicine202642541184PubTator, text miningPubMed
Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement.Orphanet J Rare Dis202642538546PubTator, text miningPubMed
A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.Int J Mol Sci202642449999PubTator, text miningPubMed
Phytochemical profiling, network pharmacology, and molecular dynamics simulations of Sinularia levi metabolites as potential α-glucosidase inhibitors in metabolic syndrome.RSC Adv202642444678PubTator, text miningPubMed

1 to 10 of 2,709

See all 2,709 papers

Sources 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.

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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