Beta-Glucuronidase

Alternative Names

GUSB

Length

21,547 bases

No. of Exons

No. of isoforms

Protein Name

Beta-glucuronidase

Molecular Mass

74732 Da

Amino Acid Count

651

Genomic Location

chr7:65,960,683-65,982,229

Gene Map Locus

7q11.21

Description

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.[From RefSeq]

Epidemiology in the Arab World

View Map

Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000181.4:c.1069C>T	Saudi Arabia	NC_000007.14:g.65974701G>A	Likely Pathogenic, Pathogenic	Pathogenic	Mucopolysaccharidosis Type VII	NG_016197.1:g.12614C>T; NM_000181.4:c.1069C>T; NP_000172.2:p.Arg357Ter	121918185	908
NM_000181.4:c.1144C>T	Saudi Arabia	NC_000007.14:g.65974626G>A	Likely Pathogenic	Pathogenic	Mucopolysaccharidosis Type VII	NG_016197.1:g.12689C>T; NM_000181.4:c.1144C>T; NP_000172.2:p.Arg382Cys	121918173	894
NM_000181.4:c.1429C>T	Saudi Arabia	NC_000007.14:g.65970329G>A	Pathogenic, Uncertain Significance	Likely Pathogenic	Mucopolysaccharidosis Type VII	NG_016197.1:g.16986C>T; NM_000181.4:c.1429C>T; NP_000172.2:p.Arg477Trp	774393243	599019

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External Links

https://medlineplus.gov/genetics/gene/gusb/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=gusb

Contributors

Asha Deepthi: 16.12.2021

Edit History

Asha Deepthi: 16.12.2021
Pratibha Nair: 10.12.2018

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