beta glucuronidase (GUSB) è un gene codificato dal simbolo GUSB. Altri nomi includono: Beta-glucuronidase; Beta-G1; GUSB. beta glucuronidase (GUSB) ha una massa di 74.73kDa, una lunghezza di amminoacidi di 651, ed è implicato in Mucopolysaccharidosis 7.
Offriamo 7 anticorpi contro beta glucuronidase (GUSB), allevati nel Coniglio, che sono adatti per WB, IHC, ELISA, ICC/IF e Dot con campioni derivati da Umano, Topo, Ratto e E. coli.
Informazioni su geni e proteine
Riepilogo UniProt
Plays an important role in the degradation of dermatan and keratan sulfates.
Sommario di Entrez
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.
Coinvolgimento nella malattia
Mucopolysaccharidosis 7: 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.
Somiglianze di sequenza
Belongs to the glycosyl hydrolase 2 family.
Modifica post-translazionale
N-linked glycosylated with 3 to 4 oligosaccharide chains.
Posizione cellulare
Lysosome.
