NP_000190.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,695 Da
NCBI Official Full Name
N-sulphoglucosamine sulphohydrolase
NCBI Official Synonym Full Names
N-sulfoglucosamine sulfohydrolase
NCBI Protein Information
N-sulphoglucosamine sulphohydrolase
UniProt Protein Name
N-sulphoglucosamine sulphohydrolase
UniProt Synonym Protein Names
Sulfoglucosamine sulfamidase; Sulphamidase
UniProt Synonym Gene Names
UniProt Entry Name
SPHM_HUMAN
NCBI Summary for SGSH
This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
UniProt Comments for SGSH
SGSH: 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.
Protein type: Hydrolase; EC 3.10.1.1; Glycan Metabolism - glycosaminoglycan degradation
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component: lysosomal lumen
Molecular Function: catalytic activity; metal ion binding; N-sulfoglucosamine sulfohydrolase activity; sulfuric ester hydrolase activity
Biological Process: glycosaminoglycan catabolic process; proteoglycan metabolic process
Disease: Mucopolysaccharidosis, Type Iiia
Research Articles on SGSH
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Pathways associated with anti-SGSH antibody
Diseases associated with anti-SGSH antibody
Organs/Tissues associated with anti-SGSH antibody
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