GUSB

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.

Full Name

glucuronidase, beta

Function

Plays an important role in the degradation of dermatan and keratan sulfates.

Biological Process

Carbohydrate metabolic process Source: ProtInc
Glucuronoside catabolic process Source: GO_Central
Glycosaminoglycan catabolic process Source: ProtInc

Cellular Location

Lysosome

Involvement in disease

Mucopolysaccharidosis 7 (MPS7):
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.

PTM

N-linked glycosylated with 3 to 4 oligosaccharide chains.