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Gaa Gene Detail
Summary
  • Symbol
    Gaa
  • Name
    glucosidase, alpha, acid
  • Synonyms
    E430018M07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:95609
    NCBI Gene: 14387
  • Gene Overview
    MyGene.info: GAA
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr11:119267887-119285454 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17568 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 83.35 cM, cytoband D-E
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    GAA, glucosidase alpha, acid
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GAA, glucosidase alpha, acid
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LYAG
  • Links
    NCBI Gene ID: 2548
    neXtProt AC: NX_P10253
    UniProt: P10253

  • Chr Location
    17q25.3; chr17:80101526-80119882 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Gaa mouse models; 1 with human GAA associations

Human Disease Mouse Models
      
IDs
View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 4 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    4 images
    51 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous inactivation of this gene leads to massive glycogen accumulation in multiple organs, cardiomyopathy, hypoactivity, severe motor disability, profound muscle weakness and wasting, and progressive kyphosis. The age of onset and clinical course ofthe disease appear to be strain-dependent.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000003997 VEGA Gene Model | MGI Sequence Detail 17568 C57BL/6J ±  kb
    transcript OTTMUST00000008875 VEGA | MGI Sequence Detail 3633 Not Applicable  
    polypeptide OTTMUSP00000004330 VEGA | MGI Sequence Detail 953 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      192 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 267
      Genomic 2
      cDNA 262
      Primer pair 2
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9918, MGI:2442916
    References
    more
    • Summaries
      All 89
      Developmental Gene Expression 9
      Diseases 4
      Gene Ontology 18
      Phenotypes 51
    • Earliest
      J:6674 Stallings RL, et al., Confirmational, provisional, and/or regional assignment of 15 enzyme loci onto Chinese hamster autosomes 1, 2, and 7. Somatic Cell Genet. 1981 Nov;7(6):683-98
    • Latest
      J:252843 Puzzo F, et al., Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid alpha-glucosidase. Sci Transl Med. 2017 Nov 29;9(418)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory