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FLASH GENE
Symbol GUSB contributors: mct/npt/shn - updated : 15-05-2012
HGNC name glucuronidase, beta
HGNC id 4696
Corresponding disease
MPS7 mucopolysaccharidosis, type VII
Location 7q11.21      Physical location : 65.425.674 - 65.447.301
Synonym name
  • beta-D-glucuronidase
  • beta-G1
  • beta-glucuronidase
    • Synonym symbol(s) BGLR, MPS7, FLJ39445, BG
    EC.number 3.2.1.31
    DNA
    TYPE functioning gene
    STRUCTURE 21.58 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    motif repetitive sequence   ALU
    text structure 37 ALU repeats
    MAPPING cloned Y linked N status confirmed
    Map cen - D7S2512 - D7S2549 - GUSB - D7S663 - D7S502 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2245 75 651 - Gratz (2005)
    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 (