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FLASH GENE
Symbol GLA contributors: mct/npt - updated : 08-11-2023
HGNC name galactosidase, alpha
HGNC id 4296
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,Golgi
    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
  • may have a potential independent role in Parkinson disease, in addition to Glucocerebrosidase
    • 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) GLAD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    with cellular accumulation of sphingolipids may lead to podocyturia and renal loss of function with increased cardiovascular morbidity and mortality in affected patients
    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