ZFIN ID: ZDB-GENE-070212-2
Gene Name: glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
Gene Symbol: gaa    Nomenclature History

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 3 Mapping Details/Browsers
Description: Exhibits alpha-glucosidase activity. Predicted to be involved in carbohydrate metabolic process. Is expressed in several structures, including eye; heart; liver; muscle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in glycogen storage disease II. Orthologous to human GAA (glucosidase alpha, acid).
Genome Resources: Alliance (1),  Gene:100002366 (1),  Ensembl(GRCz11):ENSDARG00000090714 (2)
GENE EXPRESSION
All Expression Data: Fig. 1 from Wu et al., 2017
Wild-type Stages, Structures: Pharyngula:Prim-5 (24.0h-30.0h) to Adult (90d-730d, breeding adult)
 
High Throughput Expression: Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa11797 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa33128 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • zf752 Small Deletion Exon 1 Frameshift, Premature Stop TALEN
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    TALEN1-gaa 1
    DISEASE ASSOCIATED WITH gaa HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    glycogen storage disease II Alliance Glycogen storage disease II 232300
    DISEASE ASSOCIATED WITH gaa VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process carbohydrate metabolic process (more)
    Molecular Function alpha-glucosidase activity (more)
    GO Terms (all 6)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA gaa-202 (1)    Ensembl 1054
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM gaa No data available
    MARKER RELATIONSHIPS
    gaa Contained in: [BAC] CH211-139G16 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:XM_001921922 (1) 2900 nt
    Genomic GenBank:CR392027 (1) 110726 nt
    Select Tool
    Polypeptide UniProtKB:E7FGC0 (1) 418 aa
    Sequence Information (all 11)
    ORTHOLOGY for gaa ( Chr: 3 )
    CITATIONS (16)