Synonyms:BG, ENTREZ:2990, GUSB, HGNC:4696, MIM:611499, MPS7, NM_000181, NM_001284290, NM_001293104, NM_001293105, NP_000172, NP_001271219, NP_001280033, NP_001280034, NR_120531, XM_005250297, XM_011516113, XM_011516114, XM_017012091, XM_017012092, XM_017012093, XP_005250354, XP_011514415, XP_011514416, XP_016867580, XP_016867581, XP_016867582, XR_001744658, XR_001744659, XR_001744660, XR_001744661, XR_927461, glucuronidase beta
Omim:OMIM:611499
Id:ENSG00000169919
Hgnc:HGNC:4696
Description:glucuronidase beta
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]