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GAA Gene

protein-coding GIFtS: 71

GC17P075689

glucosidase, alpha; acid
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
EC 3.2.1.20 ^³
LYAG ^²

Descriptions
Acid maltase ^², ³
Aglucosidase alfa ^³
acid alpha-glucosidase ^²
glucosidase, alpha; acid ^²
lysosomal alpha-glucosidase ^²

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

Search outside databases for aliases for GAA gene

Previous GC identifers: GC17M077620 GC17P081361 GC17P078637 GC17P078775

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the GAA gene

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)

GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P075689: (about GC identifiers)

Start:	75,689,950 bp from pter
End:	75,708,274 bp from pter
Size:	18,325 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000017.9 NT_024871.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

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

Recommended Name: Lysosomal alpha-glucosidase precursor

Size: 952 amino acids; 105338 Da

Subcellular location: Lysosome

Secondary accessions: Q09GN4 Q14351 Q16302 Q8IWE7

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

REFSEQ proteins (3 alternative transcripts):

NP_000143.2 NP_001073271.1 NP_001073272.1

ENSEMBL proteins:

ENSP00000305692 ENSP00000374665

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (GAA)
	Human Recombinant Proteins from Abnova (GAA)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IEA	--

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Antibodies for GAA:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for GAA
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (GAA), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (GAA)
	Novus Biologicals Antibodies for GAA

Assays for GAA:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GAA)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GAA)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001079803

Applied Biosystems Silencer® siRNAs for GAA

Sigma-Aldrich siRNA and siRNA Panels for GAA

Sigma-Aldrich shRNA for GAA

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for GAA
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000152
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000152
untagged cDNA clones in CMV expression vector (see all 3): NM_000152

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001079803

UniProtKB/Swiss-Prot: 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

Enzyme Number (IUBMB): EC 3.2.1.20

Genatlas biochemistry entry for GAA:

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

linkages of glycogen

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

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

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	--
GO:0004558	alpha-glucosidase activity	IEA	--
GO:0005529	sugar binding	IC	9505277

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

2 Sigma-Aldrich "Your Favorite Gene" Pathways for GAA (Your Favorite Gene powered by Ingenuity)

Galactose Metabolism
Starch and Sucrose Metabolism

GeneDecks GAA for the pathways selected above

About GeneDecksing

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

5/36 Interacting proteins for GAA (P10253² ENSP00000305692³) via UniProtKB, MINT, and/or STRING (see all 36 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FXN	ENSP00000366482³	STRING (score=.983)
AGL	ENSP00000309020³	STRING (score=.963)
GBA	ENSP00000357357³	STRING (score=.954)
GLA	ENSP00000218516³	STRING (score=.936)
GBA3	ENSP00000314501³	STRING (score=.928)

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5/20 Gene Ontology (GO) biological process terms (links to tree view) (see all 20 ):

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	--
GO:0003007	heart morphogenesis	IEA	--
GO:0005975	carbohydrate metabolic process	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for GAA

Sigma-Aldrich Small Molecules for GAA:

Inhibitor

Compounds for GAA available from Tocris Bioscience

Compound	Action	CAS number
Castanospermine	Glucosidases alpha and beta inhibitor	[79831-76-8]
Acarbose	Glucosidase alpha inhibitor (intestinal)	[56180-94-0]
Miglustat hydrochloride	Ceramide-specific glycosyltransferase inhibitor. Also inhibits alpha-glucosidase I and II	[72599-27-0]
1-Deoxynojirimycin	Glucosidase I and II inhibitor	[19130-96-2]
Voglibose	Orally active alpha-glucosidase inhibitor	[83480-29-9]

About this table

10/13 Novoseek chemical compound relationships for GAA gene (see all 13 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	90.60	299	15922959 (4), 15993875 (4), 16987711 (3), 18176891 (3) (see all 99)
mannose 6-phosphate	80.08	12	15839836 (2), 11268285 (1), 15520017 (1), 2161765 (1) (see all 9)
saci	52.22	3	7945303 (1), 1970872 (1)
isomaltose	44.94	2	2256108 (2)
mannose	36.82	2	15383547 (1), 1991835 (1)
maltose	32.62	5	2256108 (2), 16702880 (2), 15313146 (1)
dihydrofolate	5.23	2	11027569 (1)
lipid	0.00	4	10331465 (1), 8795843 (1), 8851479 (1)
glucose	0.00	16	10810293 (2), 12467732 (2), 8441762 (2), 2111708 (1) (see all 7)
thymidine	0.00	6	8786092 (2), 1794057 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GAA)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GAA)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001079803

Sigma-Aldrich siRNA and siRNA Panels for GAA

Sigma-Aldrich shRNA for GAA

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000152 NM_001079803 NM_001079804

REFSEQ mRNAs for GAA gene (3 alternative transcripts):

NM_000152.3 NM_001079803.1 NM_001079804.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000152 NM_001079803 NM_001079804

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000152
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000152
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000152

Additional cDNA sequence:

AK299462.1 BC015908.1 BC040431.1 BC065262.1 BC113831.1 CR602301.1 CR617840.1 DQ907243.1

M34424.1 S76893.1 Y00839.1

13 DOTS entries:

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

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

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

CO249323 BU527968 CB961566 AI374996 BQ711289 CD557081 BX357744 CR617840

BX376791 BF206270 AI818623 CK906333 BM126630 BM698237 CA306511 BC040431

CA946329 BC065262 AL043559 CA428696 AL046754 AI797181 BQ687169 CD370886

highest scoring ESTs for GAA:

AA028077 AA028078 AA431292 AA431653 AA444009 AA444039 AA493920 AA565284 AA583655 AA718984

Unigene Cluster for GAA:

Glucosidase, alpha; acid

Hs.1437 [show with all ESTs]

Unigene Representative Sequence: NM_000152

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for GAA

2 Ensembl transcripts including schematic representations:

ENST00000302262 ENST00000390015

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

GAA expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GAA

¹ / ² / ³

4 probe-sets matching GAA gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
31816_at²^{, 3}	U95-A	1	1.00	1.00	0.76	1.36	X55079	0.20	1.00	0.72	1
83783_at*²^{, 3}	U95-D	1	1.00	1.00	0.83	0.64	AI374996	0.60	1.00	0.82	1
202812_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000152	0.60	1.00	0.82	1
202812_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CGGGTAGTAT

SOURCE GeneReport for Unigene cluster: Hs.1437
Expression variation in blood from EXPOLDB for GAA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for GAA gene from 5/14 species (see all 14 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	GAA¹	--	glucosidase, alpha; acid	85.68(n) 84.32(a)	483352 XM_845556.1 XP_850649.1
chimpanzee (Pan troglodytes)	GAA¹	--	glucosidase, alpha; acid	98.77(n) 98.63(a)	454940 XM_001160312.1 XP_001160312.1
cow (Bos taurus)	GAA¹	--	glucosidase, alpha; acid	85.74(n) 84.06(a)	280798 NM_173913.1 NP_776338.1
rat (Rattus norvegicus)	Gaa¹	--	glucosidase, alpha, acid	81.21(n) 81.7(a)	367562 NM_199118.1 NP_954549.1
mouse (Mus musculus)	Gaa^{1, 5}	11 (74.00 cM)⁵	glucosidase, alpha, acid^{1, 5}	81(n)¹ 80.55(a)¹	14387¹ NM_008064.2¹ NP_032090.2¹ AI415624⁵ AK052211⁵ (see all 38)

About this table Species with no ortholog for GAA

ENSEMBL Gene Tree for GAA

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

Paralogs for GAA gene

GANC² GANAB²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

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

10/198 NCBI SNPs in GAA are shown (see all 198 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 123)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs8132^1,2	A,C,F,H	75707948(+)	`TGGGCC/TGGGGC`	3	--	ut3¹ ese³		7	MN EA EU WA	2074
	rs1800307^1,2	C,F,H	75700466(+)	`TCTACG/AGCCTG`	3	S/G	mis¹ ese³		10	EA MN EU WA	2516
	rs1042393^1,2	C,F,H	75694192(+)	`CCCGCG/ATGTCC`	3	R/H	mis¹ ese³		8	MN EA EU WA NA	2028
	rs1800309^1,2	C,F,H	75701636(+)	`TCAGCG/AAGCCG`	3	K/E	mis¹ ese³		13	EA MN NA EU WA	2602
	rs7567^1,2	C,F,H	75708144(+)	`CCGCTG/TCCCGG`	3	--	ut3¹ ese³		5	MN EU EA WA	600
	rs1800315^1,2	C,F,H	75707180(+)	`CTTCAC/TCTACA`	3	T/I	mis¹ ese³		9	MN EU EA WA	856
	rs2229221^1,2	C,F,H	75707816(+)	`CCTGGG/AGGTTG`	3	--	ut3¹ ese³		5	MN EU EA WA	440
	rs1800314^1,2	C,F,H	75706108(+)	`TCAACG/ATCCAC`	3	I/V	mis¹ ese³		3	EA MN WA	1794
	rs1126690^1,2	C,F,H	75706000(+)	`TGCCAA/GTAGAG`	3	V/I	mis¹		6	MN EA EU WA	1980
--	rs1042395^1,2	C,F	75694264(+)	`CGTGCA/GCCGGC`	3	R/H	mis¹		7	MN EA EU WA	2090

About this table

HapMap Linkage Disequilibrium images for GAA (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 606800 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

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

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pompe disease	99.37	613	2112630 (5), 12467732 (5), 18703766 (4), 18176891 (4) (see all 99)
glycogen storage disease	88.93	22	9382133 (2), 8577057 (2), 9694159 (1), 10331465 (1) (see all 18)
danon disease	86.84	6	16640643 (1), 16901453 (1), 7699392 (1), 17541230 (1) (see all 6)
myopathy	86.11	62	10658172 (2), 11268285 (2), 1895140 (1), 1915449 (1) (see all 41)
infantile glycogen storage disease type ii	83.94	3	11286229 (1), 8884087 (1)
glycogen storage disease type iv	78.99	5	10331465 (1), 10658172 (1), 8795843 (1), 15038665 (1)
enzyme deficiency	75.28	7	10658172 (1), 11268285 (1), 18425781 (1), 9847997 (1) (see all 6)
rigid spine syndrome	75.10	3	9052818 (1), 7719139 (1), 16531044 (1)
lysosomal storage diseases	74.61	14	11949932 (1), 11991748 (1), 15668445 (1), 17924344 (1) (see all 7)
mcardles disease	72.85	4	1837202 (2), 9847997 (1), 15038665 (1)

About this table

GeneTests: GAA

Glycogen Storage Disease Type II (Pompe Disease)

Human Gene Mutation Database: GAA
Genetic Association Database: GAA
Human Genome Epidemiology Navigator: GAA (16 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/303 PubMed articles for GAA gene (see all 303 ):

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. (PubMed id 7717400)^{1, 3, 4, 6} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} Martiniuk F.... Hirschhorn R. (1990)
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (PubMed id 16917947)^{1, 3, 4} 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, 3, 4} Vorgerd M....Kilimann M.W. (1998)
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. (PubMed id 8401535)^{1, 3, 4} Hermans M.M.P.... Reuser A.J.J. (1993)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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, and/or H-InvDB)
About This Section

Entrez Gene: 2548	HGNC: 4065	AceView: GAA	Ensembl:ENSG00000171298	euGenes: HUgn2548
ECgene: GAA	H-InvDB: GAA

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GAA	http://www.pompecenter.nl/index.html
GeneReviews	http://www.genetests.org/query?gene=GAA
Wikipedia	http://en.wikipedia.org/wiki/Alpha-glucosidase

Licensable Technologies for GAA
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for GAA:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for GAA-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for GAA		Antibodies for GAA
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for GAA		Small molecules for GAA
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (GAA)
	Antibodies (GAA)
	Chimera RNAi (GAA)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (GAA)
	Antibodies (GAA)

Search OriGene for GAA

Tocris compounds for GAA

	Drugs for GAA
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for GAA

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
GAA Gene at Home site.
Version 2.41.1
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GAA Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for GAA

Summaries
for GAA

Genomic Location
for GAA

Proteins
for GAA

Protein Domains/
Families
for GAA

Gene Function
for GAA

Pathways & Interactions
for GAA

Drugs & Compounds
for GAA

Transcripts
for GAA

Expression
for GAA

Orthologs
for GAA

Paralogs
for GAA

SNPs/Variants
for GAA

Disorders & Mutations
for GAA

Medical News
for GAA

Publications
for GAA

Search for GAA

Genome Databases showing GAA

Other Databases showing GAA

Specialized Databases showing GAA

Licensable Technologies
for GAA

Services
for GAA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GAA Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor GAA

Summariesfor GAA

Genomic Locationfor GAA

Proteinsfor GAA

Protein Domains/Familiesfor GAA

Gene Functionfor GAA

Pathways & Interactionsfor GAA

Drugs & Compoundsfor GAA

Transcriptsfor GAA

Expression for GAA

Orthologsfor GAA

Paralogsfor GAA

SNPs/Variantsfor GAA

Disorders & Mutationsfor GAA

Medical Newsfor GAA

Publicationsfor GAA

Search for GAA

Genome Databases showing GAA

Other Databases showing GAA

Specialized Databases showing GAA

Licensable Technologiesfor GAA

Servicesfor GAA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for GAA

Summaries
for GAA

Genomic Location
for GAA

Proteins
for GAA

Protein Domains/
Families
for GAA

Gene Function
for GAA

Pathways & Interactions
for GAA

Drugs & Compounds
for GAA

Transcripts
for GAA

Expression
for GAA

Orthologs
for GAA

Paralogs
for GAA

SNPs/Variants
for GAA

Disorders & Mutations
for GAA

Medical News
for GAA

Publications
for GAA

Licensable Technologies
for GAA

Services
for GAA