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MIRAGE
alpha glucosidase

Summary
Gene Symbol
  • GAA
Aliases
  • Pompe disease
  • glycogen storage disease type II
Organism
Homo sapiens (human)
NCBI Gene
2548
HGNC
4065
KEGG Gene ID
hsa:2548
PubChem
2548
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Glycogen storage disease
  • Glycoprotein
  • Glycosidase
  • Lysosome
  • Membrane
  • Phosphoprotein
  • Reference proteome
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
P10253
  • Acid maltase
  • Aglucosidase alfa
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 11 - 15 of 20 in total
GO Term Evidence Code PMID
lysosome organization
locomotory behavior
tissue development
aorta development
vacuolar sequestering
GO Hierarchy
Displaying entries 1 - 5 of 11 in total
GO Term Evidence Code PMID
lysosome
lysosomal membrane
plasma membrane
membrane
azurophil granule membrane
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
OrthoDB (Group)
Group level
Eukaryota
Group Name
alpha glucosidase
Functional Category
  • D: Cell cycle control, cell division, chromosome partitioning
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
Displaying all 4 entries
Gene Ontology
alpha-glucosidase activity
catalytic activity
hydrolase activity, acting on glycosyl bonds
hydrolase activity
Displaying all 7 entries
InterPro
Galactose mutarotase-like domain superfamily
Glycoside hydrolase family 31, N-terminal domain
Glycoside hydrolase family 31, TIM barrel domain
Glycoside hydrolase superfamily
Glycosyl hydrolase family 31, C-terminal domain
Glycosyl hydrolase, all-beta
Glycosyl hydrolases family 31, active site
Human Protein Atlas
ENSG00000171298

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas
KEGG BRITE Database
Orthology
K12316
Name
lysosomal alpha-glucosidase [EC:3.2.1.20]
References
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:2752 glycogen storage disease II
The Human Phenotype Ontology
Displaying entries 11 - 20 of 50 in total
HPO ID HPO Term
HP:0001284 Areflexia
HP:0001324 Muscle weakness
HP:0001508 Failure to thrive
HP:0001639 Hypertrophic cardiomyopathy
HP:0001640 Cardiomegaly
HP:0001712 Left ventricular hypertrophy
HP:0001716 Wolff-Parkinson-White syndrome
HP:0001744 Splenomegaly
HP:0001945 Fever
HP:0002093 Respiratory insufficiency
Displaying all 2 entries
Disease ID Disease Name
OMIM:232300
  • glycogen storage disease II
ORPHA:308552
  • glycogen storage disease due to acid maltase deficiency, infantile onset
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 31 - 40 of 75 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
101141259 GORGO32283
101334225 TURTR15762
101578691 OCTDE18042
101608295 JACJA06680
101689681 MUSPF14905
102022946 CHILA20932
102175798 CAPHI11279
102309195 HAPBU10698
102426701 MYOLU19095
103141631 POEFO09032
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 4, 2025