SGSH
Function
Catalyzes a step in lysosomal heparan sulfate degradation.
Involvement in disease
Mucopolysaccharidosis 3A
MPS3A
A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.
Sequence Similarities
Belongs to the sulfatase family.
Cellular localization
- Lysosome
Alternative names
HSS, SGSH, N-sulphoglucosamine sulphohydrolase, Sulfoglucosamine sulfamidase, Sulphamidase