Property Summary

NCBI Gene PubMed Count 106
Grant Count 151
R01 Count 27
Funding $37,679,430.44
PubMed Score 1113.91
PubTator Score 664.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma -1.100 0.000
glioblastoma 1.100 0.002
tuberculosis 1.300 0.000
breast carcinoma 1.600 0.004
adult high grade glioma 1.100 0.002
pilocytic astrocytoma 1.100 0.000
ovarian cancer 1.100 0.000

Synonym

Accession P10253 Q09GN4 Q14351 Q16302 Q8IWE7
Symbols LYAG

Gene

GAA

PANTHER Protein Class (2)

MLP Assay (14)

AID Type Active / Inconclusive / Inactive Description
1466 confirmatory 10 / 15795 / 183498 qHTS Assay for Inhibitors of Human alpha-Glucosidase as a Potential Chaperone Treatment of Pompe Disease
1473 summary 1 / 3 / 1 Quantitative High-Throughput Screen for Inhibitors and Activators of Human alpha-Glucosidase as a Potential Chaperone Treatment of Pompe Disease: Summary
2100 confirmatory 1169 / 9356 / 293744 qHTS Assay for Inhibitors and Activators of Human alpha-Glucosidase Cleavage of Glycogen
2110 confirmatory 57 / 11 / 41 Confirmation of Inhibitors and Activators of Purified Human alpha-Glucosidase Using an Alternate Red Fluorescent Susbtrate
2111 confirmatory 58 / 1 / 39 Confirmation of Inhibitors and Activators of Human alpha-Glucosidase From Spleen Homogenate Using an Alternate Red Fluorescent Susbtrate
2112 confirmatory 16 / 971 / 235761 qHTS Assay for Inhibitors and Activators of Human alpha-Glucosidase From Spleen Homogenate
2113 confirmatory 57 / 32 / 334 Confirmation of Inhibitors and Activators of Human alpha-Glucosidase From Spleen Homogenate
2115 confirmatory 19 / 13 / 306 Confirmation of Inhibitors and Activators of Purified Human alpha-Glucosidase
2242 confirmatory 715 / 15090 / 183498 qHTS Assay for Activators of Human alpha-Glucosidase as a Potential Chaperone Treatment of Pompe Disease
2293 other 1 / 0 / 0 Direct Measure of the Activation of Acid alpha-Glucosidase Catalytic Rate
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Gene RIF (89)

PMID Text
26580301 Compared with controls, GAA gene expression levels in coronary artery disease (CAD) patients were significantly increased, suggesting that GAA may be involved in the CAD development.
26575883 glycogen storage disease type II is caused by deficiency of GAA activity resulting from mutation of GAA gene
26231297 Study reports on the clinical, biochemical, morphological, muscle imaging, and genetic findings of six adult Pompe patients from five unrelated families with the c.-32-13T>G GAA gene mutation in homozygous state. All patients had decreased GAA activity and elevated creatine kinase levels.
25681614 this study shows several alterations distributed along the GAA gene in a sample of Brazilian families.
25526786 Findings indicate that GAA c.2238G > C (p.W746C) novel mutation is the most common mutation in mainland Chinese late-onset Pompe patients, as observed in Taiwanese patients expanding the genetic spectrum of the disease.
25243733 RT-PCR followed by DNA sequence analysis of patients with Pompe disease revealed new variant in GAA gene resulting in aberrant splicing event.
25231351 GAA deficiency results in reduced mTORC1 activation that is partly responsible for the skeletal muscle wasting phenotype and can be amerliorated by leucine supplementation.
25026126 Mutations in acid alpha-glucosidase gene is associated with Pompe disease.
24399866 study describes two unrelated cases affected with classical early-onset Pompe disease, both pertaining to the same small Mexican region, with the same novel homozygous frameshift mutation at gene GAA (c.1987delC)
24384324 7 of 27 in: Gene. 2014 Mar 1;537(1) Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
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AA Sequence

MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQA      1 - 70
HPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLEN     71 - 140
LSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYS    141 - 210
VEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWN    211 - 280
RDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSV    281 - 350
VQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDG    351 - 420
FRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDF    421 - 490
TNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICAS    491 - 560
SHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPE    561 - 630
ILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALT    631 - 700
LRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLG    701 - 770
TWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQP    771 - 840
MALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVA    841 - 910
TAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC                                911 - 952
//

Text Mined References (116)

PMID Year Title
26580301 2016 Altered expression of lysosomal hydrolase, acid ?-glucosidase, gene in coronary artery disease.
26575883 2015 [Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].
26231297 2015 Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25681614 2015 Novel GAA mutations in patients with Pompe disease.
25526786 2014 Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
25243733 2015 Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
25231351 2014 Suppression of mTORC1 activation in acid-?-glucosidase-deficient cells and mice is ameliorated by leucine supplementation.
25183957 2014 Pompe disease: from pathophysiology to therapy and back again.
25026126 2014 Two novel mutations in acid ?-glucosidase gene in two patients with Pompe disease.
More...