NP_000172.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
74,732 Da
NCBI Official Full Name
beta-glucuronidase
NCBI Official Synonym Full Names
glucuronidase, beta
NCBI Protein Information
beta-glucuronidase; beta-G1; OTTHUMP00000159848; OTTHUMP00000210106; beta-D-glucuronidase
UniProt Protein Name
Beta-glucuronidase
UniProt Synonym Protein Names
Beta-G1
UniProt Entry Name
BGLR_HUMAN
NCBI Summary for beta-Glucuronidase
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. There are many pseudogenes of this locus in the human genome.
UniProt Comments for beta-Glucuronidase
Function: Plays an important role in the degradation of dermatan and keratan sulfates.
Catalytic activity: A beta-D-glucuronoside + H2O = D-glucuronate + an alcohol.
Enzyme regulation: Inhibited by L-aspartic acid.
Subunit structure: Homotetramer.
Subcellular location: Lysosome.
Post-translational modification: N-linked glycosylated with 3 to 4 oligosaccharide chains. Ref.11 Ref.12 Ref.13
Involvement in disease: Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7) [
MIM:253220]; also known as Sly syndrome. MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28Note=Mucopolysaccharidosis type 7 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
Sequence similarities: Belongs to the glycosyl hydrolase 2 family.
Research Articles on beta-Glucuronidase
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Pathways associated with beta-Glucuronidase active protein
Diseases associated with beta-Glucuronidase active protein
Organs/Tissues associated with beta-Glucuronidase active protein
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