title: Human β-glucuronidase: structure, function, and application in enzyme replacement therapy.
abstract: Lysosomal storage diseases occur due to incomplete metabolic degradation of macromolecules by various hydrolytic enzymes in the lysosome. Despite structural differences, most of the lysosomal enzymes share many common features including a lysosomal targeting motif and phosphotransferase recognition sites. β-Glucuronidase (GUSB) is an important lysosomal enzyme involved in the degradation of glucuronate-containing glycosaminoglycan. The deficiency of GUSB causes mucopolysaccharidosis type VII (MPSVII), leading to lysosomal storage in the brain. GUSB is a well-studied protein for its expression, sequence, structure, and function. The purpose of this review is to summarize our current understanding of sequence, structure, function, and evolution of GUSB and its lysosomal enzyme targeting. Enzyme replacement therapy reported for this protein is also discussed.
authors.affiliation: 1 Centre for Interdisciplinary Research in Basic Sciences , Jamia Millia Islamia, Jamia Nagar, New Delhi, India .
authors.forename: Huma
authors.initials: H
authors.lastname: Naz
authors.forename: Asimul
authors.initials: A
authors.lastname: Islam
authors.forename: Abdul
authors.initials: A
authors.lastname: Waheed
authors.forename: William S
authors.initials: WS
authors.lastname: Sly
authors.forename: Faizan
authors.initials: F
authors.lastname: Ahmad
authors.forename: Imtaiyaz
authors.initials: I
authors.lastname: Hassan
mesh_terms: D056947:Enzyme Replacement Therapy; D015971:Gene Expression Regulation, Enzymologic; D005966:Glucuronidase / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000201:enzymology / Q000235:genetics; D008247:Lysosomes / Q000378:metabolism; D009154:Mutation / Q000235:genetics
chemical_list: D005966:Glucuronidase