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Aliases for GAA Gene

Aliases for GAA Gene

  • Glucosidase Alpha, Acid 2 3 5
  • Aglucosidase Alfa 3 4
  • Acid Maltase 3 4
  • EC 3.2.1.20 4 56
  • Glycogen Storage Disease Type II 2
  • Lysosomal Alpha-Glucosidase 3
  • Glucosidase, Alpha; Acid 2
  • 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 lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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 Glycosaminoglycan metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and alpha-1,4-glucosidase activity. An important paralog of this gene is MGAM.

UniProtKB/Swiss-Prot for GAA Gene

  • Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).

Tocris Summary for GAA Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for GAA Gene

Additional gene information for GAA Gene

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

Genomics for GAA Gene

GeneHancer (GH) Regulatory Elements for GAA Gene

Promoters and enhancers for GAA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I080100 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 592.6 +0.5 501 2.9 HDGF SMAD1 ARNT ARID4B SIN3A ZNF766 ZNF207 ZNF143 FOS KLF13 GAA GC17M080103 CCDC40
GH17I080144 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 22.3 +45.0 45045 3.8 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 EIF4A3 GC17P080148 ENSG00000279259 GAA ENSG00000262580 GC17P080130
GH17I080123 Enhancer 1.2 FANTOM5 Ensembl ENCODE 32.3 +23.0 23020 1.6 ARID4B SIN3A DMAP1 ZNF48 RAD21 TCF12 THAP11 USF2 REST ELF1 GAA GC17P080128 GC17M080103
GH17I080068 Enhancer 1.1 Ensembl ENCODE 25.9 -31.3 -31314 3.8 PKNOX1 FOXA2 ZFP64 ARID4B DMAP1 ZNF48 YY1 ZNF121 FOS ATF7 EIF4A3 GAA CCDC40 TBC1D16 CBX2 GC17P080040 MIR1268B
GH17I080034 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 11.3 -65.4 -65437 2.8 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 KLF13 SP3 CCDC40 TBC1D16 GAA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GAA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GAA gene promoter:

Genomic Locations for GAA Gene

Genomic Locations for GAA Gene
chr17:80,101,531-80,119,881
(GRCh38/hg38)
Size:
18,351 bases
Orientation:
Plus strand
chr17:78,075,355-78,093,679
(GRCh37/hg19)

Genomic View for GAA Gene

Genes around GAA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P10253-LYAG_HUMAN
    Recommended name:
    Lysosomal alpha-glucosidase
    Protein Accession:
    P10253
    Secondary Accessions:
    • Q09GN4
    • Q14351
    • Q16302
    • Q8IWE7

    Protein attributes for GAA Gene

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

    Three dimensional structures from OCA and Proteopedia for GAA Gene

neXtProt entry for GAA Gene

Selected DME Specific Peptides for GAA Gene

P10253:
  • GRRYMMIVDPAISS
  • TINVHLR
  • HGVFLLNSN
  • AATICASSHQFLSTHY
  • PTFFPKD
  • MALAVALT
  • AQQAMRKA
  • LHNLYGLTEA
  • GHGRYAGHWTGDV
  • VSNFTYSPD
  • GFHLCRWGY
  • GYTATLTR
  • TAFPDFTNP
  • YGSHPFY
  • WRSTGGILDVY
  • PFMRNHN
  • GELFWDDGESL
  • YRPYDEGLRRGVFITNETGQPLIG
  • LYSVEFSEEPFGV

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 posLast=6161, posLast=140140, posLast=233233, posLast=390390, posLast=470470, posLast=652652, isoforms=882, and isoforms=925

Domains & Families for GAA Gene

Gene Families for GAA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GAA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10253

UniProtKB/Swiss-Prot:

LYAG_HUMAN :
  • Belongs to the glycosyl hydrolase 31 family.
Family:
  • Belongs to the glycosyl hydrolase 31 family.
genes like me logo Genes that share domains with GAA: view

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 glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).

Enzyme Numbers (IUBMB) for GAA Gene

Phenotypes From GWAS Catalog for GAA Gene

Gene Ontology (GO) - Molecular Function for GAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004558 alpha-1,4-glucosidase activity IDA,EXP 9505277
GO:0004574 oligo-1,6-glucosidase activity EXP 5264799
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GAA: view
genes like me logo Genes that share phenotypes with GAA: view

Human Phenotype Ontology for GAA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GAA Gene

MGI Knock Outs for GAA:

Animal Model Products

miRNA for GAA Gene

Clone Products

  • R&D Systems cDNA Clones for GAA (Lysosomal alpha-Glucosidase)

No data available for 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAA gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
golgi apparatus 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 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 IEA,HDA 17897319
GO:0005886 plasma membrane TAS --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GAA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GAA Gene

Pathways & Interactions for GAA Gene

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

Pathways by source for GAA Gene

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 IEA,IMP 16917947
GO:0003007 heart morphogenesis IEA --
GO:0005975 carbohydrate metabolic process IEA --
genes like me logo Genes that share ontologies with GAA: view

No data available for SIGNOR curated interactions for GAA Gene

Drugs & Compounds for GAA Gene

(23) Drugs for GAA Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma Target, inhibitor Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 91
Miglitol Approved Pharma Target, antagonist 12
D-glucose Approved Pharma 0
Sucrose Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0

(13) Additional Compounds for GAA Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
Miglustat hydrochloride
210110-90-0

(5) Tocris Compounds for GAA Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0

(1) ApexBio Compounds for GAA Gene

Compound Action Cas Number
Acarbose Alpha-glucosidase inhibitor 56180-94-0
genes like me logo Genes that share compounds with GAA: view

Drug Products

Transcripts for GAA Gene

Unigene Clusters for GAA Gene

Glucosidase, alpha; acid:
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for GAA (Lysosomal alpha-Glucosidase)

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: - -
SP6:

ExUns: 19 ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for GAA Gene

GeneLoc Exon Structure for
GAA
ECgene alternative splicing isoforms for
GAA

Expression for GAA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GAA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GAA Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GAA Gene



Protein tissue co-expression partners for GAA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GAA Gene:

GAA

SOURCE GeneReport for Unigene cluster for GAA Gene:

Hs.1437

Evidence on tissue expression from TISSUES for GAA Gene

  • Intestine(4.5)
  • Liver(4.5)
  • Bone marrow(4.3)
  • Urine(4.3)
  • Muscle(3.4)
  • Lung(3.2)
  • Heart(2.7)
  • Nervous system(2.3)
  • Blood(2.2)
  • Kidney(2.2)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GAA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
  • mouth
  • tongue
Thorax:
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • kidney
  • liver
  • pancreas
  • spleen
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with GAA: view

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
chimpanzee
(Pan troglodytes)
Mammalia GAA 33 34
  • 98.77 (n)
cow
(Bos Taurus)
Mammalia GAA 33 34
  • 85.74 (n)
dog
(Canis familiaris)
Mammalia GAA 33 34
  • 85.68 (n)
rat
(Rattus norvegicus)
Mammalia Gaa 33
  • 81.25 (n)
mouse
(Mus musculus)
Mammalia Gaa 33 16 34
  • 80.93 (n)
oppossum
(Monodelphis domestica)
Mammalia GAA 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAA 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC422082 33
  • 74.06 (n)
GAA 34
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAA 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gaa 33
  • 64.48 (n)
zebrafish
(Danio rerio)
Actinopterygii gaa 33 34
  • 60.83 (n)
worm
(Caenorhabditis elegans)
Secernentea D2096.3 35
  • 36 (a)
R05F9.12 35
  • 34 (a)
F53F4.8 35
  • 33 (a)
aagr-1 34
  • 33 (a)
ManyToMany
aagr-2 34
  • 33 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45940 33
  • 48.65 (n)
rice
(Oryza sativa)
Liliopsida Os01g0130400 33
  • 54.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU09281 33
  • 48.53 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1039.11c 33
  • 46.02 (n)
Species where no ortholog for GAA was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for GAA (if available)
TreeFam:
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

LYAG_HUMAN-P10253
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 Variation AA Info Type
rs1031349035 uncertain-significance, Glycogen storage disease, type II 80,119,263(+) C/G/T genic_downstream_transcript_variant, intron_variant
rs1042393 benign, not specified, Glycogen storage disease, type II 80,105,798(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1042395 benign, conflicting-interpretations-of-pathogenicity, not specified, Glycogen storage disease, type II 80,105,870(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1042396 benign, conflicting-interpretations-of-pathogenicity, not specified, Glycogen storage disease, type II 80,110,970(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs1042397 benign, not specified, Glycogen storage disease, type II 80,118,264(+) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv1066606 CNV gain 25217958
nsv469591 CNV loss 16826518
nsv576129 CNV loss 21841781
nsv833561 CNV loss 17160897
nsv833562 CNV loss 17160897
nsv9596 CNV gain 18304495

Variation tolerance for GAA Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.92; 83.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAA Gene

Human Gene Mutation Database (HGMD)
GAA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAA

Disorders for GAA Gene

MalaCards: The human disease database

(28) MalaCards diseases for GAA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease ii
  • gsd2
glycogen storage disease due to acid maltase deficiency, infantile onset
  • alpha-1,4-glucosidase acid deficiency, infantile onset
glycogen storage disease due to acid maltase deficiency, late-onset
  • alpha-1,4-glucosidase acid deficiency, late-onset
glycogen storage disease
  • glycogenoses
danon disease
  • vacuolar cardiomyopathy and myopathy, x-linked
- elite association - COSMIC cancer census association via MalaCards
Search GAA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LYAG_HUMAN
  • 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:25681614, 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.

Additional Disease Information for GAA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GAA: view

No data available for Genatlas for GAA Gene

Publications for GAA Gene

  1. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. (PMID: 20080426) Labrousse P … Hwu WL (Molecular genetics and metabolism 2010) 3 4 22 44 58
  2. Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. (PMID: 18458862) Wan L … Tsai FJ (Journal of neurology 2008) 3 22 44 58
  3. Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. (PMID: 18429042) Pittis MG … Filocamo M (Human mutation 2008) 3 4 22 58
  4. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (PMID: 16917947) Montalvo AL … Pittis MG (Human mutation 2006) 3 4 22 58
  5. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. (PMID: 15313146) Chamoles NA … Casentini C (Clinica chimica acta; international journal of clinical chemistry 2004) 3 22 44 58

Products for GAA Gene

Sources for GAA Gene

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