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
RS121918175 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918176 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918182 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1250112198 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1268678201 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1302470051 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, GUSB-related disorder, Mucopolysaccharidosis type 7
RS150686327 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1790443878 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS190496263 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS200831987 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2293340 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Hepatocellular carcinoma, Mucopolysaccharidosis type 7
RS376501876 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Inborn genetic diseases, Mucopolysaccharidosis type 7
RS376505707 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Inborn genetic diseases, Mucopolysaccharidosis type 7
RS398123234 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS546131174 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS548368848 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS561880652 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Inborn genetic diseases, Mucopolysaccharidosis type 7
RS749520560 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS750022485 Health Risk Conflicting classifications of pathogenicity —
RS752523400 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Inborn genetic diseases, Mucopolysaccharidosis type 7
RS753483823 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucopolysaccharidosis type 7, Inborn genetic diseases
RS757015172 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS769252159 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS774393243 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS786205673 Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Mucopolysaccharidosis type 7, Non-immune hydrops fetalis
RS786205674 Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS794726973 Health Risk Conflicting classifications of pathogenicity —
RS886044680 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS886062403 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS886062404 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS149606212 Health Risk Conflicting classifications of pathogenicity; other Mucopolysaccharidosis type 7, Intellectual disability, Mucopolysaccharidosis type 7
RS1198438958 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918183 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1260794203 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1264172545 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1271928727 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1377855703 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1417426295 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1451709678 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1583955795 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1791443181 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1791836120 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2115900875 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484734390 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484748474 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484749278 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484765979 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484840248 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS747048051 Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS786205671 Health Risk Likely pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
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