GUSB Chromosome 7

Glucuronidase beta
105 variants 105 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Glycoside hydrolase family
Locus Type
gene with protein product
Location
7q11.21
Ensembl
ENSG00000169919
Associated Conditions (8)
Mucopolysaccharidosis type 7
GUSB-related disorder
Hepatocellular carcinoma
Inborn genetic diseases
Non-immune hydrops fetalis
Intellectual disability
Mucopolysaccharidosis type 6
Uterine corpus endometrial carcinoma
Key Variants
RS121918175
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
Health Risk
RS121918176
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
Health Risk
RS121918182
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
Health Risk
RS1250112198
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
Health Risk
RS1268678201
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
Health Risk
RS1302470051
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, GUSB-related disorder, Mucopolysaccharidosis type 7
Health Risk
RS150686327
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
Health Risk
RS1790443878
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
Health Risk
RS190496263
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
Health Risk
RS200831987
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
Health Risk
RS2293340
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Hepatocellular carcinoma, Mucopolysaccharidosis type 7
Health Risk
RS376501876
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 7, Inborn genetic diseases, Mucopolysaccharidosis type 7
Health Risk
All Variants (105)
RSID Category Clinical Significance Conditions
RS886527135 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1156563889 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1177306016 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918177 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918179 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918180 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918181 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 6, GUSB-related disorder
RS1236992554 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1238361161 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1344332366 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1382654122 Health Risk Pathogenic —
RS1434169374 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 6
RS1554303791 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1562678869 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1791107315 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1791872095 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1792080911 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484733748 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484734326 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484748655 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484764776 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2484800908 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484805672 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484806814 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484813628 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484838210 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484838592 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484841000 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484845928 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484846029 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484857180 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484858344 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484858423 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484858985 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS398123238 Health Risk Pathogenic —
RS587779400 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS765969571 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS776287966 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS786200863 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS935464108 Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1053785648 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1210475838 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918172 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918173 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Non-immune hydrops fetalis, Mucopolysaccharidosis type 7
RS121918174 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918184 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, GUSB-related disorder, Mucopolysaccharidosis type 7
RS121918185 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Non-immune hydrops fetalis, Mucopolysaccharidosis type 7
RS1583879945 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2116026958 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484858214 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
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