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FLASH GENE
Symbol GLA contributors: mct/npt - updated : 26-04-2012
HGNC name galactosidase, alpha
HGNC id 4296
Corresponding disease
GLA diffuse angiokeratoderma, Fabry disease
Location Xq22.11      Physical location : 100.652.778 - 100.663.001
Synonym name
  • alpha-D- galactoside galactohydrolase
  • alpha-galactosidase A
  • melibiase
  • agalsidase
  • Synonym symbol(s) GALA, AGAL
    EC.number 3.2.1.22
    DNA
    TYPE functioning gene
    STRUCTURE 10.22 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1418 48.8 429 - Huerva (2008)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselscapillary   
    Digestiveintestinesmall intestine   
    Endocrineneuroendocrinepituitary  highly
    Hearing/Equilibriumear   highly
    Nervousbrainhindbraincerebellum  
    Reproductivefemale systemuteruscervix highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningendothelium  
    Membraneserous membranepericardium  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a (beta/alpha) 8 domain with the active site and an antiparallel beta domain
  • N-linked carbohydrate appears at six sites in the glycoprotein dimer, revealing the basis for lysosomal transport via the mannose-6-phosphate receptor
  • melibiase domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Gla
    Homologene
    FAMILY
  • glycosyl hydrolase 27 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • cleaving alpha-galactosyl residues from glycoconjugates
  • catalyzes hydrolysis of terminal alpha-d-galactosyl residues of glycoconjugates, predominantly globotriaosylceramide (GL-3), in lysosomes
  • is responsible for the breakdown of alpha-galactosides in the lysosome
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Sortilin, is a novel GLA binding protein, with a predominant intracellular expression but also surface expression in the podocyte
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GLA
    Susceptibility to sporadic Parkinson disease
    Variant & Polymorphism other
  • a variant (NG_007119.1:g.4488C>G) within the promoter region, increasibng the risk of Parkinson disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    animal model suggesting a possibility for enzyme remplacement therapy