N-sulphoglucosamine sulphohydrolase; sulfoglucosamine sulfamidase; heparan sulfamidase; heparan-N-sulfatase (SGSH, HSS)
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Function
glucosamine-2-sulfate + H2O = D-glucosamine + sulfate
Cofactor: binds 1 Ca+2 per subunit (putative)
Structure
- conversion to 3-oxoalanine (C-formylglycine, FGly), of Cys is critical for catalytic activity (putative)
- belongs to the sulfatase family
Compartment
Pathology
- defects in SGSH are the cause of mucopolysaccharidosis 3A (Sanfillipo syndrome A)
Pharmacology
- recombinant heparan-N-sulfatase granted orphan status for treatment of Sanfilippo syndrome A[4]
Laboratory
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P51688.html
- ↑ UniProt PubMed refs
PMID: https://www.ncbi.nlm.nih.gov/pubmed/12000360
PMID: https://www.ncbi.nlm.nih.gov/pubmed/000360
PMID: https://www.ncbi.nlm.nih.gov/pubmed/15146460
PMID: https://www.ncbi.nlm.nih.gov/pubmed/146460
PMID: https://www.ncbi.nlm.nih.gov/pubmed/15902564
PMID: https://www.ncbi.nlm.nih.gov/pubmed/902564
PMID: https://www.ncbi.nlm.nih.gov/pubmed/17128482
PMID: https://www.ncbi.nlm.nih.gov/pubmed/128482
PMID: https://www.ncbi.nlm.nih.gov/pubmed/21671382
PMID: https://www.ncbi.nlm.nih.gov/pubmed/671382
PMID: https://www.ncbi.nlm.nih.gov/pubmed/9285796
PMID: https://www.ncbi.nlm.nih.gov/pubmed/85796
PMID: https://www.ncbi.nlm.nih.gov/pubmed/9554748
PMID: https://www.ncbi.nlm.nih.gov/pubmed/54748 - ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SGSH
- ↑ 4.0 4.1 Committee for Orphan Medicinal Products Public summary of positive opinion for orphan designation of recombinant human heparan-N-sulfatase for the treatment of mucopolysaccharidosis III, type A (Sanfilippo A syndrome) June 24, 2009 http://www.ema.europa.eu/docs/en_GB/document_library/Orphan_designation/2009/10/WC500005941.pdf