N-acetyl-alpha-glucosaminidase
Última actualización 18 Aug 2020
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El NAGLU gene provides instructions for producing an enzyme called alpha-N-acetylglucosaminidase. This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. Alpha-N-acetylglucosaminidase 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. Alpha-N-acetylglucosaminidase removes a sugar called N-acetylglucosamine when it is at the end of the GAG chain.
Normal function
El NAGLU gene provides instructions for producing an enzyme called alpha-N-acetylglucosaminidase. This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. Alpha-N-acetylglucosaminidase 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. Alpha-N-acetylglucosaminidase removes a sugar called N-acetylglucosamine when it is at the end of the GAG chain.
Conditions referring to this gene or chromosome
Otros nombres
alpha-N-acetylglucosaminidase
alpha-N-acetylglucosaminidase precursor
ANAG_HUMAN
N-acetylglucosaminidase, alpha
N-acetylglucosaminidase, alpha-
NAG
UFHSD
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Lecturas adicionales y referencias
- N-acetyl-alpha-glucosaminidase; MedlinePlus, National Library of Medicine.
- Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. 2005;28(5):759-67. doi: 10.1007/s10545-005-0093-y.
- Ficko-Blean E, Stubbs KA, Nemirovsky O, Vocadlo DJ, Boraston AB. Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB. Proc Natl Acad Sci U S A. 2008 May 6;105(18):6560-5. doi: 10.1073/pnas.0711491105. Epub 2008 Apr 28.
- Ohmi K, Kudo LC, Ryazantsev S, Zhao HZ, Karsten SL, Neufeld EF. Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy. Proc Natl Acad Sci U S A. 2009 May 19;106(20):8332-7. doi: 10.1073/pnas.0903223106. Epub 2009 May 5.
- 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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