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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
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:119267963-119285458 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 83.35 cM, cytoband D-E
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    192 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95609
protein coding gene Chr11:119267887-119285458 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019477
protein coding gene Chr11:123638133-123655506 (+)
A/J MGP_AJ_G0019445
protein coding gene Chr11:118168093-118187333 (+)
AKR/J MGP_AKRJ_G0019415
protein coding gene Chr11:121728348-121745726 (+)
BALB/cJ MGP_BALBcJ_G0019420
protein coding gene Chr11:118527091-118545513 (+)
C3H/HeJ MGP_C3HHeJ_G0019226
protein coding gene Chr11:122042009-122061876 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019869
protein coding gene Chr11:127411972-127431188 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017494
protein coding gene Chr11:115163949-115181525 (+)
CAST/EiJ MGP_CASTEiJ_G0018780
protein coding gene Chr11:123498650-123516039 (+)
CBA/J MGP_CBAJ_G0019197
protein coding gene Chr11:132355909-132384888 (+)
DBA/2J MGP_DBA2J_G0019309
protein coding gene Chr11:117541479-117559513 (+)
FVB/NJ MGP_FVBNJ_G0019301
protein coding gene Chr11:117209034-117226548 (+)
LP/J MGP_LPJ_G0019379
protein coding gene Chr11:123951488-123972395 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019334
protein coding gene Chr11:131302044-131319256 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019908
protein coding gene Chr11:122400586-122417932 (+)
PWK/PhJ MGP_PWKPhJ_G0018546
protein coding gene Chr11:118948296-118965577 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018338
protein coding gene Chr11:122156484-122173605 (+)
WSB/EiJ MGP_WSBEiJ_G0018832
protein coding gene Chr11:122368257-122387383 (+)



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
less
  • Phenotype Summary
    33 phenotypes from 4 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    4 images
    56 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 population 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
less
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 14387 NCBI Gene Model | MGI Sequence Detail 17496 C57BL/6J ±  kb
    transcript NM_008064 RefSeq | MGI Sequence Detail 3579 C57BL/6  
    polypeptide P70699 UniProt | EBI | MGI Sequence Detail 953 Not Applicable  
    For the selected sequence
    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 92
      Developmental Gene Expression 9
      Diseases 4
      Gene Ontology 18
      Phenotypes 56
    • 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:256944 Gatto F, et al., AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease. Sci Rep. 2017 Nov 8;7(1):15089

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    last database update
    10/01/2019
    MGI 6.14
    The Jackson Laboratory