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FLASH GENE
Symbol GLA contributors: mct/npt - updated : 26-04-2012
HGNC name galactosidase, alpha
HGNC id 4296
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