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Symbol GUSB contributors: mct/npt/shn - updated : 15-05-2012
HGNC name glucuronidase, beta
HGNC id 4696
corresponding disease(s) MPS7
related resource Mucopolysaccharidosis
Variant & Polymorphism
Candidate gene
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 (
  • 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 (