ID:SPHM_HUMAN DESCRIPTION: RecName: Full=N-sulphoglucosamine sulphohydrolase; EC=3.10.1.1; AltName: Full=Sulfoglucosamine sulfamidase; AltName: Full=Sulphamidase; Flags: Precursor; CATALYTIC ACTIVITY: N-sulfo-D-glucosamine + H(2)O = D-glucosamine + sulfate. COFACTOR: Binds 1 calcium ion per subunit (By similarity). SUBCELLULAR LOCATION: Lysosome. PTM: 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 (By similarity). DISEASE: Defects in SGSH are the cause of mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]; 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. SIMILARITY: Belongs to the sulfatase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IDS";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P51688
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006027 glycosaminoglycan catabolic process GO:0008152 metabolic process GO:0030200 heparan sulfate proteoglycan catabolic process
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
