Details for: GAA

Gene ID: 2548

Symbol: GAA

Ensembl ID: ENSG00000171298

Description: alpha glucosidase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 163.1037
    Cell Significance Index: -25.3700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 96.1192
    Cell Significance Index: -24.3800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 56.7437
    Cell Significance Index: -26.7900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 56.4729
    Cell Significance Index: -22.9400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 50.1570
    Cell Significance Index: -25.8000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.1060
    Cell Significance Index: -23.0200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.7469
    Cell Significance Index: -25.5800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.7952
    Cell Significance Index: -26.2400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.5002
    Cell Significance Index: -25.6500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.9874
    Cell Significance Index: -18.3900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.1122
    Cell Significance Index: -9.0000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.3856
    Cell Significance Index: 235.9900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.2899
    Cell Significance Index: 266.8600
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.6916
    Cell Significance Index: 13.9900
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.0509
    Cell Significance Index: 6.5300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.8925
    Cell Significance Index: 16.5000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8715
    Cell Significance Index: 52.3200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.8491
    Cell Significance Index: 39.5900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.7419
    Cell Significance Index: 19.8100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7105
    Cell Significance Index: 19.0100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6950
    Cell Significance Index: 113.0400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4991
    Cell Significance Index: 100.1200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4270
    Cell Significance Index: 22.1800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4051
    Cell Significance Index: 28.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3849
    Cell Significance Index: 210.1900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3633
    Cell Significance Index: 72.0900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3571
    Cell Significance Index: 9.7200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3541
    Cell Significance Index: 43.5500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3219
    Cell Significance Index: 44.2100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3192
    Cell Significance Index: 23.7900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.2312
    Cell Significance Index: 12.0500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2142
    Cell Significance Index: 5.7400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1803
    Cell Significance Index: 32.5000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1671
    Cell Significance Index: 4.8200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1630
    Cell Significance Index: 72.0800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1576
    Cell Significance Index: 56.5300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1488
    Cell Significance Index: 6.7500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1473
    Cell Significance Index: 18.8900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1317
    Cell Significance Index: 91.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0876
    Cell Significance Index: 2.1900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0537
    Cell Significance Index: 9.1700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0465
    Cell Significance Index: 1.3000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0300
    Cell Significance Index: 1.5200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0222
    Cell Significance Index: 0.7800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0194
    Cell Significance Index: 2.5100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0050
    Cell Significance Index: 0.5100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0047
    Cell Significance Index: 8.7900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0045
    Cell Significance Index: 4.0600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0075
    Cell Significance Index: -13.7900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0089
    Cell Significance Index: -6.5600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0099
    Cell Significance Index: -15.3000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0180
    Cell Significance Index: -13.5900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0184
    Cell Significance Index: -25.0100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0231
    Cell Significance Index: -14.6700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0264
    Cell Significance Index: -19.5200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0293
    Cell Significance Index: -1.5400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0319
    Cell Significance Index: -14.4800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0404
    Cell Significance Index: -22.8100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0467
    Cell Significance Index: -29.1700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0474
    Cell Significance Index: -1.0100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0602
    Cell Significance Index: -11.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0685
    Cell Significance Index: -5.2600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0688
    Cell Significance Index: -19.7900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0763
    Cell Significance Index: -11.0900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0919
    Cell Significance Index: -2.9500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1098
    Cell Significance Index: -5.1600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1175
    Cell Significance Index: -8.3100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1238
    Cell Significance Index: -7.9900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1261
    Cell Significance Index: -2.1100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1338
    Cell Significance Index: -15.3300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1347
    Cell Significance Index: -28.3800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1393
    Cell Significance Index: -4.8400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1479
    Cell Significance Index: -3.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1556
    Cell Significance Index: -9.8100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1617
    Cell Significance Index: -19.0700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2116
    Cell Significance Index: -4.3900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2309
    Cell Significance Index: -3.1500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2312
    Cell Significance Index: -24.0700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2442
    Cell Significance Index: -10.0100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2759
    Cell Significance Index: -15.4800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2780
    Cell Significance Index: -5.8200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3028
    Cell Significance Index: -23.9900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3055
    Cell Significance Index: -13.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3166
    Cell Significance Index: -19.4100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.3618
    Cell Significance Index: -5.7400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3948
    Cell Significance Index: -14.9500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4202
    Cell Significance Index: -10.8000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4260
    Cell Significance Index: -14.9300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.4332
    Cell Significance Index: -6.5800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4443
    Cell Significance Index: -14.1500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4484
    Cell Significance Index: -9.7200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4512
    Cell Significance Index: -4.1600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4644
    Cell Significance Index: -10.7300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.4688
    Cell Significance Index: -7.0300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4709
    Cell Significance Index: -13.5000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4759
    Cell Significance Index: -10.1000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4887
    Cell Significance Index: -16.0000
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.4937
    Cell Significance Index: -6.9300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.5052
    Cell Significance Index: -9.8600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.5422
    Cell Significance Index: -6.1600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** Alpha-glucosidase, the product of the GAA gene, is a lysosomal enzyme that catalyzes the hydrolysis of glycogen into glucose. It is a tetrameric enzyme composed of two alpha and two beta subunits, with the alpha subunits containing the active site. The enzyme has a pH-dependent activity, with optimal activity at pH 4.5. Alpha-glucosidase is involved in the degradation of glycogen in various tissues, including the liver, muscles, and kidneys. Its deficiency leads to the accumulation of glycogen, resulting in cellular dysfunction and tissue damage. **Pathways and Functions** Alpha-glucosidase is involved in several cellular pathways, including: 1. **Glycogen metabolism**: The enzyme is responsible for the breakdown of glycogen into glucose, which is then used by the cell for energy production. 2. **Lysosomal function**: Alpha-glucosidase is a lysosomal enzyme, and its activity is essential for the degradation of glycogen within lysosomes. 3. **Cardiac function**: The enzyme plays a critical role in maintaining cardiac function by regulating glycogen metabolism and preventing glycogen accumulation in cardiac muscle cells. 4. **Muscle function**: Alpha-glucosidase is involved in the regulation of muscle glycogen metabolism, which is essential for maintaining muscle function and preventing muscle weakness. **Clinical Significance** The GAA gene and its product, alpha-glucosidase, have significant clinical implications: 1. **Glycogen Storage Disease Type II (GSD II)**: The deficiency of alpha-glucosidase leads to GSD II, a genetic disorder characterized by the accumulation of glycogen in various tissues, resulting in muscle weakness, cardiomegaly, and other systemic complications. 2. **Pompe disease**: The GAA gene mutation is the most common cause of Pompe disease, a severe form of GSD II. 3. **Treatment options**: Enzyme replacement therapy (ERT) is the primary treatment for Pompe disease, which involves the administration of recombinant human alpha-glucosidase to replace the deficient enzyme. 4. **Genetic counseling**: The GAA gene mutation can be inherited in an autosomal recessive pattern, making genetic counseling essential for families affected by Pompe disease. In conclusion, the GAA gene and its product, alpha-glucosidase, play a crucial role in glycogen metabolism and have significant clinical implications for patients with Glycogen Storage Disease Type II and Pompe disease. Further research on the GAA gene and its function will provide valuable insights into the pathogenesis of these diseases and the development of more effective treatment options.

Genular Protein ID: 1439642973

Symbol: LYAG_HUMAN

Name: Lysosomal alpha-glucosidase

UniProtKB Accession Codes:

P10253 Q09GN4 Q14351 Q16302 Q8IWE7

Database IDs:

AGR 1 Allergome 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CDD 3 CPTAC 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EC 1 EMBL 26 Ensembl 6 ExpressionAtlas 1 GO 32 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 9 PIR 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 5 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3049072

Title: Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.

PubMed ID: 3049072

DOI: 10.1002/j.1460-2075.1988.tb02998.x

PubMed ID: 2268276

Title: Characterization of the human lysosomal alpha-glucosidase gene.

PubMed ID: 2268276

DOI: 10.1042/bj2720493

PubMed ID: 2111708

Title: 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

DOI: 10.1089/dna.1990.9.85

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7695647

Title: Identification of a de novo point mutation resulting in infantile form of Pompe's disease.

PubMed ID: 7695647

DOI: 10.1006/bbrc.1995.1418

PubMed ID: 1856189

Title: Human lysosomal alpha-glucosidase. Characterization of the catalytic site.

PubMed ID: 1856189

DOI: 10.1016/s0021-9258(18)92727-4

PubMed ID: 8435067

Title: Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.

PubMed ID: 8435067

DOI: 10.1042/bj2890681

PubMed ID: 12754519

Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

PubMed ID: 12754519

DOI: 10.1038/nbt827

PubMed ID: 7603530

Title: Glycogenosis type II (acid maltase deficiency).

PubMed ID: 7603530

DOI: 10.1002/mus.880181414

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 17897319

Title: Integral and associated lysosomal membrane proteins.

PubMed ID: 17897319

DOI: 10.1111/j.1600-0854.2007.00643.x

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29061980

Title: Structure of human lysosomal acid alpha-glucosidase-a guide for the treatment of Pompe disease.

PubMed ID: 29061980

DOI: 10.1038/s41467-017-01263-3

PubMed ID: 2203258

Title: 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

PubMed ID: 1652892

Title: Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.

PubMed ID: 1652892

PubMed ID: 1898413

Title: Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.

PubMed ID: 1898413

DOI: 10.1016/0006-291x(91)91906-s

PubMed ID: 8401535

Title: Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.

PubMed ID: 8401535

DOI: 10.1002/humu.1380020406

PubMed ID: 8094613

Title: 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

DOI: 10.1042/bj2890687

PubMed ID: 1684505

Title: Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.

PubMed ID: 1684505

DOI: 10.1089/dna.1991.10.681

PubMed ID: 8486380

Title: The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks.

PubMed ID: 8486380

DOI: 10.1006/geno.1993.1185

PubMed ID: 7866409

Title: Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).

PubMed ID: 7866409

DOI: 10.1002/humu.1380040410

PubMed ID: 7981676

Title: A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

PubMed ID: 7981676

DOI: 10.1093/hmg/3.7.1081

PubMed ID: 7881422

Title: 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

DOI: 10.1093/hmg/3.12.2213

PubMed ID: 7717400

Title: Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

PubMed ID: 7717400

PubMed ID: 8912788

Title: Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).

PubMed ID: 8912788

DOI: 10.1111/j.1469-1809.1996.tb00433.x

PubMed ID: 8834250

Title: Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.

PubMed ID: 8834250

DOI: 10.1007/bf02267074

PubMed ID: 9535769

Title: Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

PubMed ID: 9535769

DOI: 10.1006/bbrc.1998.8255

PubMed ID: 9660056

Title: Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.

PubMed ID: 9660056

DOI: 10.1111/j.1399-0004.1998.tb02749.x

PubMed ID: 9521422

Title: Glycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.

PubMed ID: 9521422

DOI: 10.1002/(sici)1098-1004(1998)11:3<209::aid-humu5>3.0.co;2-c

PubMed ID: 10206684

Title: The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II.

PubMed ID: 10206684

PubMed ID: 10737124

Title: Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.

PubMed ID: 10737124

DOI: 10.1007/s100480050030

PubMed ID: 10189220

Title: Novel mutations in African American patients with glycogen storage disease Type II.

PubMed ID: 10189220

DOI: 10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2

PubMed ID: 10338092

Title: Molecular genetic study of Pompe disease in Chinese patients in Taiwan.

PubMed ID: 10338092

DOI: 10.1002/(sici)1098-1004(1999)13:5<380::aid-humu6>3.0.co;2-a

PubMed ID: 11071489

Title: Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

PubMed ID: 11071489

DOI: 10.1212/wnl.55.8.1122

PubMed ID: 11738358

Title: Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

PubMed ID: 11738358

DOI: 10.1016/s0960-8966(01)00247-4

PubMed ID: 12923862

Title: Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.

PubMed ID: 12923862

DOI: 10.1002/ajmg.a.20164

PubMed ID: 12601120

Title: Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.

PubMed ID: 12601120

DOI: 10.1212/01.wnl.0000048661.95327.bf

PubMed ID: 14643388

Title: New GAA mutations in Japanese patients with GSDII (Pompe disease).

PubMed ID: 14643388

DOI: 10.1016/s0887-8994(03)00267-4

PubMed ID: 14695532

Title: 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

DOI: 10.1002/humu.10286

PubMed ID: 14972326

Title: Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

PubMed ID: 14972326

DOI: 10.1016/j.ymgme.2003.11.011

PubMed ID: 15145338

Title: A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.

PubMed ID: 15145338

DOI: 10.1016/j.nmd.2004.02.012

PubMed ID: 15668445

Title: Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.

PubMed ID: 15668445

DOI: 10.1212/01.wnl.0000149528.95362.20

PubMed ID: 16782080

Title: A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.

PubMed ID: 16782080

DOI: 10.1016/j.cca.2006.04.007

PubMed ID: 16433701

Title: Two clinical forms of glycogen-storage disease type II in two generations of the same family.

PubMed ID: 16433701

DOI: 10.1111/j.1399-0004.2005.00557.x

PubMed ID: 16917947

Title: Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.

PubMed ID: 16917947

DOI: 10.1002/humu.20374

PubMed ID: 17643989

Title: Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

PubMed ID: 17643989

DOI: 10.1016/j.nmd.2007.06.002

PubMed ID: 18425781

Title: Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

PubMed ID: 18425781

DOI: 10.1002/humu.20745

PubMed ID: 18429042

Title: Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

PubMed ID: 18429042

DOI: 10.1002/humu.20753

PubMed ID: 19588081

Title: Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

PubMed ID: 19588081

DOI: 10.1007/s00415-009-5219-y

PubMed ID: 20350966

Title: Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene.

PubMed ID: 20350966

DOI: 10.1177/0883073809356035

PubMed ID: 20080426

Title: Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

PubMed ID: 20080426

DOI: 10.1016/j.ymgme.2009.12.014

PubMed ID: 21109266

Title: Late form of Pompe disease with glycogen storage in peripheral nerves axons.

PubMed ID: 21109266

DOI: 10.1016/j.jns.2010.10.031

PubMed ID: 22644586

Title: Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

PubMed ID: 22644586

DOI: 10.1002/humu.22108

PubMed ID: 22676651

Title: A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

PubMed ID: 22676651

DOI: 10.1186/1750-1172-7-35

PubMed ID: 25681614

Title: Novel GAA mutations in patients with Pompe disease.

PubMed ID: 25681614

DOI: 10.1016/j.gene.2015.02.023

Sequence Information:

  • Length: 952
  • Mass: 105324
  • Checksum: 6E2717BF7201F469
  • Sequence:
    • MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE ETHPAHQQGA 
SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ EQCEARGCCY IPAKQGLQGA 
QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA TLTRTTPTFF PKDILTLRLD VMMETENRLH 
FTIKDPANRR YEVPLETPHV HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF 
FADQFLQLST SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA 
LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV VQQYLDVVGY 
PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV QWNDLDYMDS RRDFTFNKDG 
FRDFPAMVQE LHQGGRRYMM IVDPAISSSG PAGSYRPYDE GLRRGVFITN ETGQPLIGKV 
WPGSTAFPDF TNPTALAWWE DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN 
PPYVPGVVGG TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR 
STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL GNTSEELCVR 
WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT LRYALLPHLY TLFHQAHVAG 
ETVARPLFLE FPKDSSTWTV DHQLLWGEAL LITPVLQAGK AEVTGYFPLG TWYDLQTVPV 
EALGSLPPPP AAPREPAIHS EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP 
MALAVALTKG GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ 
LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS WC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.