GUSB
Function
Plays an important role in the degradation of dermatan and keratan sulfates.
Involvement in disease
Mucopolysaccharidosis 7
MPS7
A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS7 is an autosomal recessive form with a highly variable phenotype, 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-linked glycosylated with 3 to 4 oligosaccharide chains.
Sequence Similarities
Belongs to the glycosyl hydrolase 2 family.
Cellular localization
- Lysosome
Alternative names
Beta-glucuronidase, Beta-G1, GUSB