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FLASH GENE
Symbol GUSB contributors: mct/npt/shn - updated : 15-05-2012
HGNC name glucuronidase, beta
HGNC id 4696
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Nervousbrain    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoietic    
Connectivebone   
Connectivecartilage   
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
 digestive
Blood/Hematopoieticneutrophil
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP , PhosphoP
mono polymer homomer , tetramer
HOMOLOGY
interspecies ortholog to Gusb, Mus musculus
ortholog to GUSB, pan troglodytes
ortholog to Gusb, rattus norvegicus
ortholog to gusb, Danio rerio
Homologene
FAMILY
  • glycosyl hydrolase 2 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • glucuronidase, beta, acting on dermatan sulfate, heparan sulfate
  • catalyzing the fifth step of degradation of glucosaminoglycans (mucopolysaccharides)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    glycosaminoglycan catabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • egasyn, EG (
  • cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) MPS7
    related resource Mucopolysaccharidosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • Gene therapy by transfer of a beta-glucuronidase gene into mutant haematopoietic mouse stem cells results in long-term expression of low levels of beta-glucuronidase which partially corrects the mucopolysaccharidosis VII by reducing lysosomal storage in liver and spleen (
  • A retroviral vector expressing the full-length canine beta-glucuronidase cDNA corrected the deficiency in MPS VII cells (
  • ANIMAL & CELL MODELS
  • inherited deficiency of beta-glucuronidase in mice causes mucopolysaccharidosis VII, a progressive degenerative disease that reduces lifespan and results from lysosomal storage of undegraded glycosaminoglycans in the spleen, liver, kidney, cornea, brain and skeletal system (
  • Beta-glucuronidase deficiency in dog leads to mucopolysaccharidosis type VII (
  • mice with beta-glucuronidase deficiency display lysosomal storage disease with similarities to human mucopolysaccharidosis type VII (
  • Cats with beta-glucuronidase deficiency display walking difficulties, an enlarged abdomen, facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, and vacuolated lymphocytes (
  • Affected gus(mps2J)/gus(mps2J) mice are deficient in beta-glucuronidase because of insertion of an intracisternal A particle element into intron 8, have have < 1% of normal beta-glucuronidase activity and secondary elevations of other lysosomal enzymes and the phenotype includes shortened life-span, dysmorphic features, and skeletal dysplasia (
  • E536A mutant mice have no GUS activity in any tissue and display a severe MPS VII phenotype, E536Q and L175F mutant mice have low levels of residual activity and milder MPS VII phenotypes (
  • MPSVII-iPS cells demonstrated a markedly impaired ability to form embryoid bodies in vitro, and MPSVII-embryoid bodies exibited elevated levels of hyaluronan and its receptor CD44, and markedly reduced expression levels of E-cadherin and cell-proliferating marker (