| NAGLU | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | NAGLU, MPS-IIIB, MPS3B, NAG, UFHSD, CMT2V, N-acetyl-alpha-glucosaminidase | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 609701 MGI: 1351641 HomoloGene: 222 GeneCards: NAGLU | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene.[5]
Function
This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.
Clinical significance
Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate.[5]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000108784 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000001751 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 "Entrez Gene: N-acetylglucosaminidase, alpha".
Further reading
- Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ (June 1996). "Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)". Human Molecular Genetics. 5 (6): 771–7. doi:10.1093/hmg/5.6.771. PMID 8776591.
- Clark AG, Glanowski S, Nielsen R, Thomas PD, Kejariwal A, Todd MA, Tanenbaum DM, Civello D, Lu F, Murphy B, Ferriera S, Wang G, Zheng X, White TJ, Sninsky JJ, Adams MD, Cargill M (December 2003). "Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios". Science. 302 (5652): 1960–3. Bibcode:2003Sci...302.1960C. doi:10.1126/science.1088821. PMID 14671302. S2CID 6682593.
- Yogalingam G, Hopwood JJ (October 2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications". Human Mutation. 18 (4): 264–81. doi:10.1002/humu.1189. PMID 11668611. S2CID 25731955.
- Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF (June 1996). "The molecular basis of Sanfilippo syndrome type B". Proceedings of the National Academy of Sciences of the United States of America. 93 (12): 6101–5. Bibcode:1996PNAS...93.6101Z. doi:10.1073/pnas.93.12.6101. PMC 39196. PMID 8650226.
- Winder-Rhodes SE, Garcia-Reitböck P, Ban M, Evans JR, Jacques TS, Kemppinen A, Foltynie T, Williams-Gray CH, Chinnery PF, Hudson G, Burn DJ, Allcock LM, Sawcer SJ, Barker RA, Spillantini MG (February 2012). "Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome". Movement Disorders. 27 (2): 312–5. doi:10.1002/mds.24029. PMID 22102531. S2CID 4834914.
- Sasaki T, Sukegawa K, Masue M, Fukuda S, Tomatsu S, Orii T (November 1991). "Purification and partial characterization of alpha-N-acetylglucosaminidase from human liver". Journal of Biochemistry. 110 (5): 842–6. doi:10.1093/oxfordjournals.jbchem.a123668. PMID 1783617.
- Vance JM, Pericak-Vance MA, Elston RC, Conneally PM, Namboodiri KK, Wappner RS, Yu PL (1980). "Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism". American Journal of Medical Genetics. 7 (2): 131–40. doi:10.1002/ajmg.1320070207. PMID 6781343.
- Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF (January 1998). "NAGLU mutations underlying Sanfilippo syndrome type B". American Journal of Human Genetics. 62 (1): 64–9. doi:10.1086/301685. PMC 1376809. PMID 9443878.
- Ayala JM, Goyal S, Liverton NJ, Claremon DA, O'Keefe SJ, Hanlon WA (June 2000). "Serum-induced monocyte differentiation and monocyte chemotaxis are regulated by the p38 MAP kinase signal transduction pathway". Journal of Leukocyte Biology. 67 (6): 869–75. doi:10.1002/jlb.67.6.869. PMID 10857861. S2CID 28719955.
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