glucosamine (N-acetyl)-6-sulfatase
Ultimo aggiornamento 18 Ago 2020
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L GNS gene provides instructions for producing an enzyme called N-acetylglucosamine-6-sulfatase. This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. N-acetylglucosamine-6-sulfatase 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. N-acetylglucosamine-6-sulfatase removes a chemical group known as a sulfate from a subset of GAGs called heparan sulfate when the sugar N-acetylglucosamine-6-sulfate is located at the end.
Normal function
L GNS gene provides instructions for producing an enzyme called N-acetylglucosamine-6-sulfatase. This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. N-acetylglucosamine-6-sulfatase 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. N-acetylglucosamine-6-sulfatase removes a chemical group known as a sulfate from a subset of GAGs called heparan sulfate when the sugar N-acetylglucosamine-6-sulfate is located at the end.
Conditions referring to this gene or chromosome
Altri nomi
G6S
glucosamine-6-sulfatase
GNS_HUMAN
MGC21274
N-acetylglucosamine-6-sulfatase
N-acetylglucosamine-6-sulfatase precursor
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Ulteriori letture e riferimenti
- glucosamine (N-acetyl)-6-sulfatase; MedlinePlus, National Library of Medicine.
- Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E. Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. Arch Neurol. 2007 Nov;64(11):1629-34. doi: 10.1001/archneur.64.11.1629.
- Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgu F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Burger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP. Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234.
- 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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