N-sulfoglucosamine sulfohydrolase
Last updated 18 Aug 2020
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The SGSH gene provides instructions for producing an enzyme called sulfamidase. This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. Sulfamidase is involved in the step-wise breakdown of large molecules called glycosaminoglycans (GAGs). GAGs are composed of sugar molecules that are linked together to form a long string. To break down these large molecules, individual sugars are removed one at a time from one end of the molecule. Sulfamidase removes a chemical group known as a sulfate from a sugar called glucosamine when it is at the end of the GAG chain.
Normal function
The SGSH gene provides instructions for producing an enzyme called sulfamidase. This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. Sulfamidase is involved in the step-wise breakdown of large molecules called glycosaminoglycans (GAGs). GAGs are composed of sugar molecules that are linked together to form a long string. To break down these large molecules, individual sugars are removed one at a time from one end of the molecule. Sulfamidase removes a chemical group known as a sulfate from a sugar called glucosamine when it is at the end of the GAG chain.
Conditions referring to this gene or chromosome
Other names
heparan N-sulfatase
heparan sulfate sulfatase
HSS
N-sulphoglucosamine sulphohydrolase
N-sulphoglucosamine sulphohydrolase precursor
SFMD
SPHM_HUMAN
sulfamidase
sulfoglucosamine sulfamidase
sulphamidase
Further reading and references
- N-sulfoglucosamine sulfohydrolase; MedlinePlus, National Library of Medicine.
- Meyer A, Kossow K, Gal A, Steglich C, Muhlhausen C, Ullrich K, Braulke T, Muschol N. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat. 2008 May;29(5):770. doi: 10.1002/humu.20738.
- Muschol N, Storch S, Ballhausen D, Beesley C, Westermann JC, Gal A, Ullrich K, Hopwood JJ, Winchester B, Braulke T. Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. Hum Mutat. 2004 Jun;23(6):559-66. doi: 10.1002/humu.20037.
- Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4.
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