Gene: GUSB

Alternate names for this Gene: BG|MPS7

Gene Summary: This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.21

Description of this Gene: glucuronidase beta

Type of Gene: protein-coding

rs73148102 in GUSB gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121918173 in GUSB gene and Hydrops Fetalis, Non-Immune PMID 26036949 2015 Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

rs121918181 in GUSB gene and Mucopolysaccharidosis VI PMID 19224584 2009 Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

PMID 30413728 2018 Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons.

PMID 12403825 2002 Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.

PMID 8089138 1994 Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

PMID 12859417 2003 Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.

PMID 8644704 1996 Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

PMID 26908836 2016 Clinical course of sly syndrome (mucopolysaccharidosis type VII).

PMID 9921904 1998 A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.

PMID 9490302 1998 Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

rs121918172 in GUSB gene and Mucopolysaccharidosis VII PMID 8089138 1994 Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

PMID 12859417 2003 Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.

PMID 8111413 1993 Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.

PMID 8111412 1993 Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.

PMID 8644704 1996 Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

PMID 8707294 1996 beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.

PMID 9490302 1998 Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

PMID 9099834 1997 Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.

PMID 7680524 1993 Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.

PMID 12522561 2003 Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

PMID 1702266 1991 Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.

PMID 7633414 1995 Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.

PMID 7573038 1995 A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

PMID 19224584 2009 Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

PMID 23777470 2013 Human β-glucuronidase: structure, function, and application in enzyme replacement therapy.

PMID 8089138 1994 The L176F/P649L enzyme was as stable as wild-type enzyme following endocytosis by fibroblasts and delivery to lysosomes, but was more labile to heat inactivation at 65 degrees C. To study the mutant enzyme at lower levels of expression, we stably transfected mouse mucopolysaccharidosis type VII cells with the L176F/P649L cDNA and selected single-copy cell lines.

PMID 7573038 1995 The 480G-->A mutation was found initially in the pseudodeficient mother of a child with mucopolysaccharidosis VII (MPSVII), but it was not on her disease-causing allele, which carried the L176F mutation.

PMID 7573038 1995 The 480G-->A change was also present in an unrelated individual with another MPSVII allele who had unusually low beta-glucuronidase activity, but whose clinical symptoms were probably unrelated to beta-glucuronidase deficiency.

PMID 26036949 2015 Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

PMID 9490302 1998 Two patients of another family were compound heterozygotes for a C38G and a Y626H allele, and were probably extremely mild MPS VII patients.

rs73148102 in GUSB gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.