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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GAA Gene

protein-coding GIFtS: 69
GCID: GC17P078075

glucosidase, alpha; acid

Explore 40 diseases affiliated with
GAA via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Glucosidase, Alpha; Acid¹ ²
Acid Maltase² ³
Aglucosidase Alfa² ³
EC 3.2.1.20³ ⁸
LYAG²
Lysosomal Alpha-Glucosidase²

External Ids:	HGNC: 4065¹	Entrez Gene: 2548²	Ensembl: ENSG00000171298⁷	OMIM: 606800⁵	UniProtKB: P10253³

Export aliases for GAA gene to outside databases

Previous GC identifers: GC17M077620 GC17P081361 GC17P078637 GC17P078775 GC17P075689 GC17P073516

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GAA:

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)

UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253

Function: Essential for the degradation of glygogen to glucose in lysosomes

Gene Wiki entry for GAA (Acid alpha-glucosidase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GAA gene promoter:
Max1 STAT1 Pax-6 STAT1beta AP-2gamma NF-E2 p45 STAT1alpha PPAR-alpha NF-E2 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GAA promoter sequence

Search SABiosciences Chromatin IP Primers for GAA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GAA

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.2-q25.3 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25.2-q25.3

GAA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAA gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P078075: view genomic region (about GC identifiers)

Start:	78,075,355 bp from pter	End:	78,093,679 bp from pter
Size:	18,325 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253 (See protein sequence)

Recommended Name: Lysosomal alpha-glucosidase precursor

Size: 952 amino acids; 105324 Da

Subcellular location: Lysosome. Lysosome membrane

Secondary accessions: Q09GN4 Q14351 Q16302 Q8IWE7

Explore the universe of human proteins at neXtProt for GAA: NX_P10253

Post-translational modifications:

The different forms of acid glucosidase are obtained by proteolytic processing¹

Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose

6-phosphate receptor¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P10253

4/19 DME Specific Peptides for GAA (P10253) (see all 19)

PTFFPKD

YGSHPFY

PFMRNHN

TINVHLR

GAA Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000143.2 NP_001073271.1 NP_001073272.1

ENSEMBL proteins:

ENSP00000460543 ENSP00000458306 ENSP00000374665 ENSP00000305692 ENSP00000459972

Human Recombinant Protein Products for GAA:

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	Novus Biologicals GAA Proteins Novus Biologicals GAA Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IDA	9505277
GO:0005765	lysosomal membrane	IEA	--

GAA for ontologies About GeneDecksing

GAA Antibody Products:

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Assay Products for GAA:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GAA for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR000519 P_trefoil

IPR017853 Glycoside_hydrolase_SF

IPR017957 P_trefoil_CS

IPR000322 Glyco_hydro_31

IPR011013 Gal_mutarotase_SF_dom

Graphical View of Domain Structure for InterPro Entry P10253

ProtoNet protein and cluster: P10253

2 Blocks protein families:

IPB000322 Glycoside hydrolase

IPB000519 P-type trefoil domain

UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253

Similarity: Belongs to the glycosyl hydrolase 31 family

Similarity: Contains 1 P-type (trefoil) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: LYAG_HUMAN, P10253

Function: Essential for the degradation of glygogen to glucose in lysosomes

Catalytic activity: Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of

alpha-D-glucose

Genatlas biochemistry entry for GAA:

glucosidase,alpha-,acid,lysosomal,catalyzing the hydrolysis of alpha 1,4 and alpha 1,6-glucosidic linkages of glycogen

Enzyme Number (IUBMB): EC 3.2.1.20¹ ²

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	--	--
GO:0004558	alpha-glucosidase activity	IDA	9505277
GO:0030246	carbohydrate binding	IEA	--
GO:0032450	maltose alpha-glucosidase activity	IEA	--

GAA for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for GAA:

Increased S DNA content

Upregulation of Wnt/beta-caten

7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Gaa):

behavior/neurological	cardiovascular system	cellular	growth/size	homeostasis/metabolism
muscle	skeleton

GAA for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for GAA: Gaa^tm1Vdp Gaa^tm1.1Rabn Gaa^tm1Rabn Gaa^tm2Rabn

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GAA

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate GAA:
		hsa-miR-4325
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAA

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Notch-mediated HES/HEY network

Notch-mediated HES/HEY network

1.00

Lysosome

Lysosome

1.00

Galactose metabolism

Galactose metabolism

0.47

Glucuronidation

Starch and sucrose metabolism

0.42

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for GAA

Notch-mediated HES/HEY network

4 Kegg Pathways (Kegg details for GAA):

	Galactose metabolism
	Starch and sucrose metabolism
	Metabolic pathways
	Lysosome

GAA for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GAA

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/12 Interacting proteins for GAA (P10253^{2, 3} ENSP00000305692⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NCF1	P14598³, ENSP00000289473⁴	I2D: score=1 STRING: ENSP00000289473
SLC2A4	P14672³	I2D: score=1
AGL	ENSP00000294724⁴	STRING: ENSP00000294724
GLA	ENSP00000218516⁴	STRING: ENSP00000218516
SI	ENSP00000264382⁴	STRING: ENSP00000264382

About this table

Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table

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	--	--
GO:0005975	carbohydrate metabolic process	--	--

GAA for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GAA for compounds About GeneDecksing

EMD Millipore small molecules for GAA:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for GAA available from Tocris Bioscience About this table

Compound	Action	CAS #
Castanospermine	Glucosidases alpha and beta inhibitor	[79831-76-8]
Acarbose	Glucosidase alpha inhibitor (intestinal)	[56180-94-0]
Miglustat hydrochloride	alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases	[210110-90-0]
1-Deoxynojirimycin	Glucosidase I and II inhibitor	[19130-96-2]
Voglibose	Orally active alpha-glucosidase inhibitor	[83480-29-9]

9 HMDB Compounds for GAA About this table

Compound	Synonyms	CAS #	PubMed Ids
Alpha-D-Glucose	Hexopyranose (see all 11)	492-62-6	--
D-Fructose	Beta-d-arabino-hexulose (see all 16)	53188-23-1	--
D-Galactose	(+)-Galactose (see all 14)	59-23-4	--
D-Glucose	(+)-Glucose (see all 23)	50-99-7	--
D-Maltose	alpha-Malt sugar (see all 40)	69-79-4	--
Melibiose	6-(D-galactosido)-D-glucose (see all 17)	585-99-9	--
Sucrose	(+)-Sucrose (see all 11)	57-50-1	--
Uridine diphosphate glucose	(UPD)-glucose (see all 24)	133-89-1	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

2 DrugBank Compounds for GAA About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Acarbose	--	56180-94-0	target	inhibitor	16763908 3539207 3467980 15292070 1594557 11752352 16702880 11404235
Miglitol	--	72432-03-2	target	antagonist	19818342 19085811

10/24 Novoseek chemical compound relationships for GAA gene (see all 24) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	91	334	15922959 (4), 15993875 (4), 16987711 (3), 18176891 (3) (see all 99)
mannose 6-phosphate	79.7	15	15839836 (2), 11268285 (1), 19277015 (1), 15520017 (1) (see all 10)
acarbose	68.5	14	16702880 (2), 20033296 (2), 20441705 (1), 16702881 (1) (see all 10)
saci	51	3	7945303 (1), 1970872 (1)
maltotetraose	49.8	2	2256108 (2)
miglustat	47.1	7	17213836 (1)
isomaltose	43.5	2	2256108 (2)
carnitine	35.2	4	10331465 (1), 8257975 (1)
mannose	34.6	2	15383547 (1), 1991835 (1)
maltose	30.4	5	2256108 (2), 16702880 (2), 15313146 (1)

Search CenterWatch for drugs/clinical trials and news about GAA / LYAG

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GAA gene (3 alternative transcripts):

NM_000152.3 NM_001079803.1 NM_001079804.1

Unigene Cluster for GAA:

Glucosidase, alpha; acid

Hs.1437 [show with all ESTs]

Unigene Representative Sequence: NM_000152

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000570803 ENST00000577106 ENST00000390015(uc002jxo.3 uc002jxq.3)

ENST00000574376 ENST00000302262(uc002jxp.3) ENST00000572080 ENST00000572803

ENST00000570716 ENST00000573556

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate GAA:
		hsa-miR-4325
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GAA

Additional cDNA sequence:

AK299462.1 BC015908.1 BC040431.1 BC065262.1 BC113831.1 DQ907243.1 M34424.1 S76893.1

Y00839.1

13 DOTS entries:

DT.40106107 DT.446486 DT.95214327 DT.100829308 DT.97800364 DT.100766056 DT.100797310 DT.91749846

DT.99965597 DT.100797311 DT.121625835 DT.95214329 DT.92476036

24/280 AceView cDNA sequences (see all 280):

CA946329 BX355818 BX357745 CB529362 CR617840 BU151485 AI818623 BC040431

CB961566 CD370886 BM698237 BF725755 AI797181 BF206270 AI374996 BQ711289

AL043559 BX357744 BM765790 BX376791 CA306511 AL046754 BI962528 CA428696

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GAA (see all 6) About this scheme

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
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for GAA

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GAA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGGGTAGTAT

About this image

GAA expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Caudal Endochondral Bones

Bone

Endochondral Facial Bones

Bone

Bone

Bone

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GAA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GAA

SOURCE GeneReport for Unigene cluster: Hs.1437

SABiosciences Expression via Pathway-Focused PCR Arrays including GAA:

Autophagy in human mouse rat

Cell Death PathwayFinder in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GAA

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for GAA gene from 7/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC422082¹	lysosomal alpha-glucosidase-like	74.11(n) 71.28(a)		422082 XM_420085.3 XP_420085.3
lizard (Anolis carolinensis)	Reptilia	GAA⁶	--	70(a)	1 ↔ 1	2(100596073-100619591)
African clawed frog (Xenopus laevis)	Amphibia	CB185105.1²	--	77.33(n)		CB185105.1
zebrafish (Danio rerio)	Actinopterygii	gaa¹	glucosidase, alpha; acid (Pompe disease, glycogen storage more	61.22(n) 58.59(a)		100002366 XM_001921922.1 XP_001921957.1
honey bee (Apis mellifera)	Insecta	-- --	--	30(a) 25(a)	1 ↔ 1 possible ortholog	GroupUn.6026(13-9577) GroupUn.6815(10-1068)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G45940¹	alpha-glucosidase	48.62(n) 42.1(a)		823737 NM_114463.1 NP_190180.1
rice (Oryza sativa)	Liliopsida	Os01g0130400¹	hypothetical protein	55.07(n) 43.47(a)		4325976 NM_001048457.1 NP_001041922.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GAA gene

MGAM² SI² GANC² GANAB² LOC93432²

2 SIMAP similar genes for GAA using alignment to 4 protein entries: LYAG_HUMAN (see all proteins):

SI MGAM

GAA for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253

Polymorphism: 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

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1800299^1,2	C,F	non-pathogenic	78078656(+)	`GCTTCG/AATTGC`	6	/N /D	mis¹		6	MN NA NS EU	5551
rs1800309^1,2	C,F,H	non-pathogenic	78087041(+)	`TCAGCG/AAGCCG`	6	/K /E	mis¹ ese³		18	EA MN NA NS EU	6845
rs28940868^1,2	C	pathogenic	78086721(+)	`GCCGAC/AGTCTG`	6	/E /D	mis¹ ese³		2	NA	4
rs121907943^1,2	C,F	pathogenic	78092070(+)	`AGGCCC/TGAGGG`	6	R *	stg¹		1	NA	4530
rs74000393^1,2	C	--	73514936(+)	`ACTCCC/TACACT`	1	--	ut3¹		2	WA	120
rs4889816^1,2	C	--	73514940(+)	`CCACAC/ATGGGC`	1	--	ut3¹		2	NA	4
rs77316001^1,2	F	--	73515568(+)	`ACAACA/GGAGGT`	1	--	ds500¹		1	WA	118
rs28670699^1,2	C	--	73515840(+)	`AGCATT/CTTCTC`	1	--	ds500¹		3	WA NA	122
rs2304853^1,2	C,F,H	--	78073589(-)	`GGCGGA/GGTCCA`	4	--	us2k¹ ut3¹		25	EA NA NS WA EU	5189
rs2304852^1,2	C,F,A	--	78073723(-)	`TTCCTA/GTGGGT`	4	--	ut3¹ us2k¹		15	EA NA CSA WA	2071

HapMap Linkage Disequilibrium report for GAA (78075355 - 78093679 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for GAA
2 CNVs: 2235 30854
Human Gene Mutation Database (HGMD): GAA

Locus Specific Mutation Databases (LSDB): GAA

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GAA

DNA2.0 Custom Variant and Variant Library Synthesis for GAA

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GAA for disorders           About GeneDecksing

OMIM gene information: 606800
OMIM disorders: 232300
UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253

Defects in GAA are the cause of glycogen storage disease type 2 (GSD2) [MIM:232300]; also called acid

alpha-glucosidase (GAA) deficiency or acid maltase deficiency (AMD). GSD2 is 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

20/40 diseases for GAA (see all 40): About MalaCards

glycogen storage disease glycogen storage disease ii rigid spine syndrome x-linked myopathy with excessive autophagy

limb-girdle muscular dystrophy lysosomal storage disease muscular dystrophy carotid artery dissection

inclusion body myositis rippling muscle disease danon disease vacuolar myopathy

respiratory failure muscular atrophy neuromuscular disease myopathy

metabolic disorders anorexia nervosa cleft lip dysphagia

9 diseases from the University of Copenhagen DISEASES database for GAA:

Glycogen storage disease Fabry disease Gaucher's disease Mucopolysaccharidosis

Myopathy Krabbe disease Danon disease Hypertrophic cardiomyopathy

Carotid artery dissection

10/44 Novoseek disease relationships for GAA gene (see all 44) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pompe disease	99.4	700	2112630 (5), 12467732 (5), 18703766 (4), 18176891 (4) (see all 99)
glycogen storage disease	88.4	23	9382133 (2), 8577057 (2), 9694159 (1), 10331465 (1) (see all 19)
myopathy	86.1	65	10658172 (2), 11268285 (2), 1895140 (1), 1915449 (1) (see all 43)
danon disease	85.7	6	16640643 (1), 16901453 (1), 7699392 (1), 17541230 (1) (see all 6)
infantile glycogen storage disease type ii	83.4	3	11286229 (1), 8884087 (1)
glycogen storage disease type iv	77.8	5	10331465 (1), 10658172 (1), 8795843 (1), 15038665 (1)
rigid spine syndrome	77.3	3	9052818 (1), 7719139 (1), 16531044 (1)
enzyme deficiency	77	9	10658172 (1), 20464284 (1), 11268285 (1), 18425781 (1) (see all 8)
lysosomal storage diseases	74.1	15	11949932 (1), 11991748 (1), 15668445 (1), 17924344 (1) (see all 8)
respiratory failure	72.7	13	11591850 (2), 18176891 (2), 2112630 (1), 14592241 (1) (see all 9)

GeneTests: GAA

Glycogen Storage Disease Type II (Pompe Disease)

Genetic Association Database (GAD): GAA
Human Genome Epidemiology (HuGE) Navigator: GAA (27 documents)

Export disorders for GAA gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GAA gene, integrated from 9 sources (see all 350):
(articles sorted by number of sources associating them with GAA)

Utopia: connect your pdf to the dynamic
world of online information

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. (PubMed id 7717400)^{1, 2, 4, 9} Boerkoel C.F.... Raben N. (1995)
Sequence of the cDNA and 5'-flanking region for human acid alpha- glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. (PubMed id 2111708)^{1, 2, 9} Martiniuk F.... Hirschhorn R. (1990)
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. (PubMed id 14695532)^{1, 2, 9} Hermans M.M.P.... Reuser A.J.J. (2004)
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype. (PubMed id 8834250)^{1, 2, 9} Tsunoda H....Martiniuk F. (1996)
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal alpha- glucosidase in patients with glycogen storage disease type II. (PubMed id 7881422)^{1, 2, 9} Hermans M.M.P.... Reuser A.J.J. (1994)
The conservative substitution Asp-645-->Glu in lysosomal alpha- glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. (PubMed id 8094613)^{1, 2, 9} Hermans M.M.P.... Reuser A.J.J. (1993)
Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells. (PubMed id 2203258)^{1, 2, 9} Martiniuk F.... Hirschhorn R. (1990)
Genetic heterozygosity and pseudodeficiency in the Po mpe disease newborn screening pilot program. (PubMed id 20080426)^{1, 2, 9} Labrousse P....Hwu W.L. (2010)
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (PubMed id 16917947)^{1, 2, 9} Montalvo A.L.... Pittis M.G. (2006)
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. (PubMed id 10737124)^{1, 2, 9} Vorgerd M....Kilimann M.W. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2548	HGNC: 4065	AceView: GAA	Ensembl:ENSG00000171298	euGenes: HUgn2548
ECgene: GAA	Kegg: 2548	H-InvDB: GAA

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GAA	Pharmacogenomics, SNPs, Pathways
GAA	http://cluster15.erasmusmc.nl/klgn/pompe/mutations.html
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GAA
Wikipedia	http://en.wikipedia.org/wiki/Alpha-glucosidase

Intellectual Property for GAA gene
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Patent Information for GAA gene:
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GeneCards and IP:
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GAA Gene

glucosidase, alpha; acid

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ENZYME DEFICIENCY
Limb girdle
Colon Cancer
MYOPATHY, CONGENITAL
Muscular Dystrophies
McArdles Disease
Lysosomal Storage Diseases
LYSOSOMAL ACID PHOSPHATASE
Distal Myopathies
Glycogen Storage Disease Type III
Acute respiratory failure
Dermatomyositis
Infantile Glycogen Storage Disease Type II
Central Core Disease
Myopathy
Neuromuscular Diseases
Protein Deficiency
Respiratory failure
Glycogen Storage Disease
HEART FAILURE
Pompe Disease
Cardiomyopathy
Heart Diseases
Glycogen Storage Disease Type IV
Motor Neuron Disease
Muscular Dystrophy Oculopharyngeal
Mitochondrial Myopathies
Muscular Dystrophy Duchenne
Glycogen Storage Disease Type II (Pompe Disease)
Cardiac Hypertrophy
Apnea Sleep
Mitochondrial Diseases
Atrophy
Hypertrophy
Mental Retardation
Tumors
RIGID SPINE SYNDROME
Myotonic Dystrophy
metabolic disorder
genetic disorder
Muscular Atrophy Spinal
Muscular Dystrophy Facioscapulohumeral
DANON DISEASE
Polymyositis
Cardiopulmonary Arrest

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GAA Gene

glucosidase, alpha; acid

Aliasesfor GAA gene

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