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Aliases for GAA Gene

Aliases for GAA Gene

  • Glucosidase, Alpha; Acid 2 3
  • Aglucosidase Alfa 3 4
  • Acid Maltase 3 4
  • EC 4 63
  • Glycogen Storage Disease Type II 2
  • Lysosomal Alpha-Glucosidase 3
  • Pompe Disease 2
  • LYAG 3

External Ids for GAA Gene

Previous GeneCards Identifiers for GAA Gene

  • GC17M077620
  • GC17P081361
  • GC17P078637
  • GC17P078775
  • GC17P075689
  • GC17P078075
  • GC17P073516

Summaries for GAA Gene

Entrez Gene Summary for GAA Gene

  • This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GAA Gene

GAA (Glucosidase, Alpha; Acid) is a Protein Coding gene. Diseases associated with GAA include glycogen storage disease ii and glycogen storage disease due to acid maltase deficiency, infantile onset. Among its related pathways are Lysosome and Metabolism. GO annotations related to this gene include carbohydrate binding and maltose alpha-glucosidase activity. An important paralog of this gene is MGAM.

UniProtKB/Swiss-Prot for GAA Gene

  • Essential for the degradation of glygogen to glucose in lysosomes

Tocris Summary for GAA Gene

Gene Wiki entry for GAA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAA Gene

Genomics for GAA Gene

Regulatory Elements for GAA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GAA Gene

80,101,541 bp from pter
80,119,881 bp from pter
18,341 bases
Plus strand

Genomic View for GAA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GAA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAA Gene

Proteins for GAA Gene

  • Protein details for GAA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Lysosomal alpha-glucosidase
    Protein Accession:
    Secondary Accessions:
    • Q09GN4
    • Q14351
    • Q16302
    • Q8IWE7

    Protein attributes for GAA Gene

    952 amino acids
    Molecular mass:
    105324 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GAA Gene

Proteomics data for GAA Gene at MOPED

Post-translational modifications for GAA Gene

  • Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor
  • The different forms of acid glucosidase are obtained by proteolytic processing
  • Glycosylation at Ser46, Thr52, Ser61, Asn140, Asn233, Asn390, Asn470, Asn652, Asn882, and Asn925
  • Modification sites at PhosphoSitePlus

Other Protein References for GAA Gene

Antibody Products

Domains for GAA Gene

Suggested Antigen Peptide Sequences for GAA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 P-type (trefoil) domain.
  • Belongs to the glycosyl hydrolase 31 family.
  • Contains 1 P-type (trefoil) domain.
  • Belongs to the glycosyl hydrolase 31 family.
genes like me logo Genes that share domains with GAA: view

No data available for Gene Families for GAA Gene

Function for GAA Gene

Molecular function for GAA Gene

GENATLAS Biochemistry:
glucosidase,alpha-,acid,lysosomal,catalyzing the hydrolysis of alpha 1,4 and alpha 1,6-glucosidic linkages of glycogen
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose
UniProtKB/Swiss-Prot Function:
Essential for the degradation of glygogen to glucose in lysosomes

Enzyme Numbers (IUBMB) for GAA Gene

Gene Ontology (GO) - Molecular Function for GAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004558 alpha-1,4-glucosidase activity IDA 9505277
GO:0030246 carbohydrate binding IEA --
GO:0032450 maltose alpha-glucosidase activity IEA --
genes like me logo Genes that share ontologies with GAA: view
genes like me logo Genes that share phenotypes with GAA: view

Animal Models for GAA Gene

MGI Knock Outs for GAA:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GAA

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for GAA Gene

Localization for GAA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAA Gene

Lysosome. Lysosome membrane.

Subcellular locations from

Jensen Localization Image for GAA Gene COMPARTMENTS Subcellular localization image for GAA gene
Compartment Confidence
lysosome 5
vacuole 5
golgi apparatus 2
plasma membrane 2
endoplasmic reticulum 1
endosome 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 9505277
GO:0005765 lysosomal membrane IDA 17897319
GO:0016020 membrane IDA 19946888
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GAA: view

Pathways for GAA Gene

genes like me logo Genes that share pathways with GAA: view

Pathways by source for GAA Gene

1 R&D Systems pathway for GAA Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for GAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000023 maltose metabolic process IC 9505277
GO:0002026 regulation of the force of heart contraction IEA --
GO:0002086 diaphragm contraction IMP 16917947
GO:0003007 heart morphogenesis IEA --
GO:0005975 carbohydrate metabolic process TAS --
genes like me logo Genes that share ontologies with GAA: view

Drugs for GAA Gene

(3) Drugbank Compounds for GAA Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • Acarbosa
56180-94-0 441184 Target inhibitor approved, investigational
  • Glyset
72432-03-2 441314 Target antagonist approved
Target investigational

(5) Tocris Compounds for GAA Gene

Compound Action Cas Number
1-Deoxynojirimycin Glucosidase I and II inhibitor [19130-96-2]
Castanospermine Glucosidases alpha and beta inhibitor [79831-76-8]
Kifunensine Inhibitor of class I alpha-mannosidases [109944-15-2]
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases [210110-90-0]
Voglibose Orally active alpha-glucosidase inhibitor [83480-29-9]

(1) ApexBio Compounds for GAA Gene

Compound Action Cas Number
Acarbose Alpha-glucosidase inhibitor [56180-94-0]

(8) HMDB Compounds for GAA Gene

Compound Synonyms Cas Number PubMed IDs
  • a-D-Glucopyranose
  • beta-D-Arabino-hexulose
  • Roferose ST
  • 1-alpha-D-Glucopyranosyl-4-alpha-D-glucopyranose

(24) Novoseek inferred chemical compound relationships for GAA Gene

Compound -log(P) Hits PubMed IDs
glycogen 91 141
mannose 6-phosphate 79.7 11
acarbose 68.5 12
saci 51 2
maltotetraose 49.8 2
genes like me logo Genes that share compounds with GAA: view

Transcripts for GAA Gene

Unigene Clusters for GAA Gene

Glucosidase, alpha; acid:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GAA

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GAA Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b · 17c ^ 18 ^
SP1: - - - -
SP2: - - -
SP3: -
SP4: -
SP5: - -

ExUns: 19 ^ 20 ^ 21

Relevant External Links for GAA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GAA Gene

mRNA expression in normal human tissues for GAA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for GAA Gene

This gene is overexpressed in Urine (25.4) and Nasal epithelium (6.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GAA Gene

SOURCE GeneReport for Unigene cluster for GAA Gene Hs.1437

genes like me logo Genes that share expressions with GAA: view

Expression partners for GAA Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GAA Gene

Orthologs for GAA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GAA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GAA 35
  • 85.74 (n)
  • 84.06 (a)
GAA 36
  • 84 (a)
(Canis familiaris)
Mammalia GAA 35
  • 85.68 (n)
  • 84.32 (a)
GAA 36
  • 84 (a)
(Mus musculus)
Mammalia Gaa 35
  • 80.93 (n)
  • 80.34 (a)
Gaa 16
Gaa 36
  • 80 (a)
(Pan troglodytes)
Mammalia GAA 35
  • 98.77 (n)
  • 98.63 (a)
GAA 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Gaa 35
  • 81.25 (n)
  • 81.7 (a)
(Monodelphis domestica)
Mammalia GAA 36
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia GAA 36
  • 64 (a)
(Gallus gallus)
Aves LOC422082 35
  • 74.06 (n)
  • 71.18 (a)
GAA 36
  • 51 (a)
(Anolis carolinensis)
Reptilia GAA 36
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gaa 35
  • 64.48 (n)
  • 66.59 (a)
(Danio rerio)
Actinopterygii gaa 35
  • 60.83 (n)
  • 58.17 (a)
gaa 36
  • 55 (a)
(Caenorhabditis elegans)
Secernentea D2096.3 37
  • 36 (a)
F53F4.8 37
  • 33 (a)
R05F9.12 37
  • 34 (a)
aagr-1 36
  • 33 (a)
aagr-2 36
  • 33 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45940 35
  • 48.65 (n)
  • 42.46 (a)
(Oryza sativa)
Liliopsida Os01g0130400 35
  • 54.62 (n)
  • 42.94 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09281 35
  • 48.53 (n)
  • 40.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1039.11c 35
  • 46.02 (n)
  • 42.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
Species with no ortholog for GAA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GAA Gene

Gene Tree for GAA (if available)
Gene Tree for GAA (if available)

Paralogs for GAA Gene

Paralogs for GAA Gene

(2) SIMAP similar genes for GAA Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with GAA: view

Variants for GAA Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GAA Gene

There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer

Sequence variations from dbSNP and Humsavar for GAA Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs7567 -- 80,119,750(+) CCGCT(G/T)CCCGG utr-variant-3-prime
rs8132 -- 80,119,554(+) TGGGC(C/T)GGGGC utr-variant-3-prime
rs894305 -- 80,108,971(-) AACTT(C/T)TTGAT intron-variant
rs894306 -- 80,108,960(-) ATTCC(C/T)TCGAT intron-variant
rs1042393 Benign, - 80,105,798(+) CCCGC(A/G)TGTCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GAA Gene

Variant ID Type Subtype PubMed ID
nsv833561 CNV Loss 17160897
nsv469591 CNV Loss 16826518
nsv908972 CNV Loss 21882294
nsv9596 CNV Gain 18304495
nsv833562 CNV Loss 17160897

Relevant External Links for GAA Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

Disorders for GAA Gene

(1) OMIM Diseases for GAA Gene (606800)


  • Glycogen storage disease 2 (GSD2) [MIM:232300]: A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. {ECO:0000269 PubMed:10189220, ECO:0000269 PubMed:10206684, ECO:0000269 PubMed:10338092, ECO:0000269 PubMed:10737124, ECO:0000269 PubMed:11071489, ECO:0000269 PubMed:11738358, ECO:0000269 PubMed:12601120, ECO:0000269 PubMed:12923862, ECO:0000269 PubMed:14643388, ECO:0000269 PubMed:14695532, ECO:0000269 PubMed:14972326, ECO:0000269 PubMed:15145338, ECO:0000269 PubMed:15668445, ECO:0000269 PubMed:16433701, ECO:0000269 PubMed:1652892, ECO:0000269 PubMed:16782080, ECO:0000269 PubMed:1684505, ECO:0000269 PubMed:16917947, ECO:0000269 PubMed:17643989, ECO:0000269 PubMed:18425781, ECO:0000269 PubMed:18429042, ECO:0000269 PubMed:1898413, ECO:0000269 PubMed:19588081, ECO:0000269 PubMed:20080426, ECO:0000269 PubMed:20350966, ECO:0000269 PubMed:21109266, ECO:0000269 PubMed:22644586, ECO:0000269 PubMed:22676651, ECO:0000269 PubMed:7695647, ECO:0000269 PubMed:7717400, ECO:0000269 PubMed:7866409, ECO:0000269 PubMed:7881422, ECO:0000269 PubMed:7981676, ECO:0000269 PubMed:8094613, ECO:0000269 PubMed:8401535, ECO:0000269 PubMed:8834250, ECO:0000269 PubMed:9521422, ECO:0000269 PubMed:9535769, ECO:0000269 PubMed:9660056, ECO:0000269 Ref.5}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(44) Novoseek inferred disease relationships for GAA Gene

Disease -log(P) Hits PubMed IDs
pompe disease 99.4 224
glycogen storage disease 88.4 21
myopathy 86.1 45
danon disease 85.7 6
infantile glycogen storage disease type ii 83.4 2

Relevant External Links for GAA

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with GAA: view

No data available for Genatlas for GAA Gene

Publications for GAA Gene

  1. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. (PMID: 7717400) Boerkoel C.F. … Raben N. (Am. J. Hum. Genet. 1995) 3 4 23 48
  2. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. (PMID: 20080426) Labrousse P. … Hwu W.L. (Mol. Genet. Metab. 2010) 3 4 23 48
  3. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. (PMID: 15313146) Chamoles N.A. … Casentini C. (Clin. Chim. Acta 2004) 3 23 48
  4. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. (PMID: 15668445) Anneser J.M. … Schoser B.G. (Neurology 2005) 3 4 23
  5. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (PMID: 16917947) Montalvo A.L. … Pittis M.G. (Hum. Mutat. 2006) 3 4 23

Products for GAA Gene

Sources for GAA Gene

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