Defects in SGSH are the cause of mucopolysaccharidosis type 3A (MPS3A); also known as Sanfilippo syndrome A. MPS3A is 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. Belongs to the sulfatase family. Note: This description may include information from UniProtKB.
Protein type: Glycan Metabolism - glycosaminoglycan degradation; EC 22.214.171.124; Hydrolase
Cellular Component: lysosomal lumen
Molecular Function: N-sulfoglucosamine sulfohydrolase activity; sulfuric ester hydrolase activity; metal ion binding; catalytic activity
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.