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MGP001383

UniProt Annotations

Entry Information
Gene Nameglucuronidase, beta
Protein EntryBGLR_HUMAN
UniProt IDP08236
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Long; IsoId=P08236-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P08236-2; Sequence=VSP_001799; Name=3; IsoId=P08236-3; Sequence=VSP_054830; Note=No experimental confirmation available.;
Catalytic ActivityA beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol.
DiseaseMucopolysaccharidosis 7 (MPS7) [MIM:253220]: 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. {ECO:0000269|PubMed:12522561, ECO:0000269|PubMed:12859417, ECO:0000269|PubMed:1702266, ECO:0000269|PubMed:7573038, ECO:0000269|PubMed:7633414, ECO:0000269|PubMed:7680524, ECO:0000269|PubMed:8089138, ECO:0000269|PubMed:8111412, ECO:0000269|PubMed:8111413, ECO:0000269|PubMed:8644704, ECO:0000269|PubMed:8707294, ECO:0000269|PubMed:9099834, ECO:0000269|PubMed:9490302}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=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.
Enzyme RegulationInhibited by L-aspartic acid.
FunctionPlays an important role in the degradation of dermatan and keratan sulfates.
PtmN-linked glycosylated with 3 to 4 oligosaccharide chains. {ECO:0000269|PubMed:12754519, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218}.
SimilarityBelongs to the glycosyl hydrolase 2 family. {ECO:0000305}.
Subcellular LocationLysosome.
SubunitHomotetramer.
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