In enzymology, a N-sulfoglucosamine sulfohydrolase (EC 3.10.1.1), otherwise known as SGSH, is an enzyme that catalyzes the chemical reaction. N-sulfo-D-glucosamine + H 2 O D-glucosamine + sulfate. Thus, the two substrates of this enzyme are N-sulfo-D-glucosamine and H 2 O, whereas its two products are D-glucosamine and sulfate.. This enzyme belongs to the family of …

N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene. [5][6] A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270).

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2024年12月25日 · SGSH (N-Sulfoglucosamine Sulfohydrolase) is a Protein Coding gene. Diseases associated with SGSH include Mucopolysaccharidosis, Type Iiia and Mucopolysaccharidosis Iii. Among its related pathways are Glycosaminoglycan metabolism and Diseases of glycosylation.

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2024年12月10日 · Pre-symptomatic treatment of progressive neurodegenerative disease (mucopolysaccharidosis type IIIA) via intra-cerebrospinal fluid injection of recombinant human SGSH mediates highly significant reductions in neuropathology in a canine model. Title: Enzyme replacement reduces neuropathology in MPS IIIA dogs.

N-sulfoglucosamine sulfohydrolase (SGSH) belongs to the sulfatase family and catalyses the cleavage of N-linked sulfate groups from the GAGs heparin sulfate and heparin. The active site is characterized by the amino-acid sequence motif C (X)PSR that …

2024年6月17日 · Clinical resource with information about SGSH, Mucopolysaccharidosis, MPS-III-A, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

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More than 80 mutations in the SGSH gene have been found to cause mucopolysaccharidosis type IIIA (MPS IIIA). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS IIIA reduce or eliminate the function of sulfamidase.