Details for: GAA

Gene ID: 2548

Symbol: GAA

Ensembl ID: ENSG00000171298

Description: alpha glucosidase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 2.17
    Marker Score: 8037
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 2.04
    Marker Score: 1997
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.93
    Marker Score: 7601
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.86
    Marker Score: 47752
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.53
    Marker Score: 1530
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.49
    Marker Score: 1705
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.47
    Marker Score: 82055
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.41
    Marker Score: 3550
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.22
    Marker Score: 674
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.2
    Marker Score: 7313
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.19
    Marker Score: 796
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.12
    Marker Score: 2173
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.08
    Marker Score: 437
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.06
    Marker Score: 1495
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.01
    Marker Score: 4357
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.01
    Marker Score: 2704
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71722
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47947
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30395
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.97
    Marker Score: 2427.5
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.97
    Marker Score: 1688
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.95
    Marker Score: 2159
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2399
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 484
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 441
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.92
    Marker Score: 1420
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.91
    Marker Score: 381
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2706
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.88
    Marker Score: 1299
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5288
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.87
    Marker Score: 247
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.87
    Marker Score: 506
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.86
    Marker Score: 1419
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.85
    Marker Score: 901
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4847
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.85
    Marker Score: 195
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.83
    Marker Score: 415
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.83
    Marker Score: 7902
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.83
    Marker Score: 6185
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.83
    Marker Score: 51009
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.83
    Marker Score: 8550
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.82
    Marker Score: 9561
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.82
    Marker Score: 880
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.81
    Marker Score: 839
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.8
    Marker Score: 346
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 607
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 318
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.78
    Marker Score: 363
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.77
    Marker Score: 859
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.77
    Marker Score: 1988
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.76
    Marker Score: 7160
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.76
    Marker Score: 768
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.75
    Marker Score: 2886
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.75
    Marker Score: 27531
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.74
    Marker Score: 1341
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.73
    Marker Score: 1923
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 378
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.73
    Marker Score: 487
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.73
    Marker Score: 2588
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.73
    Marker Score: 1374.5
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.72
    Marker Score: 985
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.71
    Marker Score: 24680
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.71
    Marker Score: 6085
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.71
    Marker Score: 366.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7
    Marker Score: 10942
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2920
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.69
    Marker Score: 703
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 629
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 0.68
    Marker Score: 1653
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.68
    Marker Score: 1539
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.67
    Marker Score: 233
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.67
    Marker Score: 443
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.67
    Marker Score: 1414
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.67
    Marker Score: 2782
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.67
    Marker Score: 614
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.67
    Marker Score: 803
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.66
    Marker Score: 716
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.66
    Marker Score: 1063
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.66
    Marker Score: 362
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.65
    Marker Score: 166.5
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.65
    Marker Score: 1774
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.64
    Marker Score: 1306
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.63
    Marker Score: 409
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.63
    Marker Score: 259
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.63
    Marker Score: 234
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.62
    Marker Score: 651
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.61
    Marker Score: 151
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.61
    Marker Score: 2481
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.61
    Marker Score: 1078
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.61
    Marker Score: 419
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.61
    Marker Score: 427
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.6
    Marker Score: 990.5
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.6
    Marker Score: 312
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6
    Marker Score: 6765
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.6
    Marker Score: 12765
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.6
    Marker Score: 409
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.59
    Marker Score: 3119

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Other Information

**Key characteristics:** * The GAA gene is located on chromosome 15q21.1. * It is a large gene with a molecular weight of approximately 140 kDa. * The protein is a glycoprotein with a molecular weight of approximately 130 kDa. * It is expressed in a variety of cell types, including cortical thymic epithelial cells, pancreatic A cells, placental villous trophoblast, alveolar macrophages, Kupffer cells, lung macrophages, CD14-positive, CD16-negative classical monocyte, kidney collecting duct principal cell, Hofbauer cells, and elicited macrophages. **Pathways and functions:** * The GAA protein is involved in the alpha-1,4-glucosidase activity pathway, which is responsible for the degradation of complex carbohydrates, such as glycogen. * It is also involved in the regulation of heart contraction and the metabolism of carbohydrates. * The protein is a key regulator of the immune response, and it is involved in the activation of inflammatory responses. * It is also involved in the regulation of the inflammatory response to infection. **Clinical significance:** * Mutations in the GAA gene have been linked to several human diseases, including galactosemia, a disorder caused by a deficiency of galactose. * The GAA protein is also involved in the regulation of inflammation, and mutations in the gene have been linked to inflammatory diseases, such as rheumatoid arthritis and Crohn's disease. **Additional notes:** * The GAA protein is a highly conserved protein, with a similar protein found in other mammals. * The GAA protein is a very important protein in human health, and its dysfunction can lead to a number of diseases.

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 EPD 1 Ensembl 6 ExpressionAtlas 1 GO 32 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 20 PDBsum 9 PIR 1 PRO 1 PROSITE 4 PROSITE-ProRule 2 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 SAM 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. For the full schema, download it here.