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beta glucuronidase (GUSB, beta-G1, MPS7)

Function: - lysosomal hydrolase - role in the degradation of dermatan & keratan sulfates N-linked glycosylated with 3 to 4 oligosaccharide chains beta-D-glucuronoside + H2O D-glucuronate + an alcohol Structure: - homotetramer - belongs to the glycosyl hydrolase 2 family Compartment: lysosome Alternative splicing: named isoforms=2 Expression: - leukocytes, other tissues ? - present in urine Pathology: - defects in GUSB are associated with mucopolysaccharidosis 7 & non-immune hydrops fetalis - GUSB increases nonspecifically in many renal diseases - tissue levels increase in many cancers, giving increased activity in body fluids, e.g. a) pleural fluid {lung cancer} b) gastric juice {stomach cancer} c) vaginal fluid {cervical cancer}. Genetics: Gene locus: 7q21.11

Related

mucopolysaccharidosis-7; Sly syndrome; MPS7

Specific

vestronidase alfa-vjbk (Mepsevii)

General

glycosidase (glycoside hydrolase) lysosomal hydrolase

Properties

SIZE: entity length = 651 aa MW = 75 kD COMPARTMENT: lysosome MOTIF: signal sequence {1-22} N-glycosylation site {N173} N-glycosylation site {N272} N-glycosylation site {N420} glutamate residue {E451} N-glycosylation site {N631}

References

  1. Clinical Guide to Laboratory Tests, 2nd ed. Tietz NW (ed) WB Saunders Co, Philadelphia PA, 1990, pg 259
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=GUSB
  3. UniProt :accession P08236

Databases & Figures

OMIM 253220 UniProt P08236 PFAM correlations Entrez Gene 2990 KEGG correlations ENZYME 3.2.1.31 Contents of Cytotoxic T-cell Granules