EAX07951.1
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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
glucuronidase, beta, isoform CRA_c
NCBI Official Synonym Full Names
glucuronidase, beta
NCBI Official Synonym Symbols
NCBI Protein Information
beta-glucuronidase; beta-G1; beta-D-glucuronidase
UniProt Protein Name
Beta-glucuronidase
UniProt Synonym Protein Names
Beta-G1
UniProt Entry Name
BGLR_HUMAN
NCBI Summary for GUSbeta
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.[provided by RefSeq, May 2014]
UniProt Comments for GUSbeta
GUSB: Plays an important role in the degradation of dermatan and keratan sulfates. Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7); 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. 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. Belongs to the glycosyl hydrolase 2 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.2.1.31; Hydrolase; Xenobiotic Metabolism - drug metabolism - other enzymes; Glycan Metabolism - glycosaminoglycan degradation; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Carbohydrate Metabolism - starch and sucrose; Carbohydrate Metabolism - pentose and glucuronate interconversions
Chromosomal Location of Human Ortholog: 7q21.11
Cellular Component: lysosomal lumen; membrane; intracellular membrane-bound organelle
Molecular Function: protein domain specific binding; beta-glucuronidase activity; receptor binding
Biological Process: glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis; hyaluronan metabolic process; hyaluronan catabolic process
Disease: Mucopolysaccharidosis, Type Vii
Research Articles on GUSbeta
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Products associated with GUSbeta elisa kit
Pathways associated with GUSbeta elisa kit
Diseases associated with GUSbeta elisa kit
Organs/Tissues associated with GUSbeta elisa kit
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