NAGLU

NAGLU
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
Aliases NAGLU, MPS-IIIB, MPS3B, NAG, UFHSD, CMT2V, N-acetyl-alpha-glucosaminidase
External IDs MGI: 1351641 HomoloGene: 222 GeneCards: NAGLU
Orthologs
Species Human Mouse
Entrez

4669

27419

Ensembl

ENSG00000108784

ENSMUSG00000001751

UniProt

P54802

n/a

RefSeq (mRNA)

NM_000263

NM_013792

RefSeq (protein)

NP_000254.2

n/a

Location (UCSC) Chr 17: 42.54 – 42.54 Mb Chr 11: 101.07 – 101.08 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene.[3]

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.[3]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. 1 2 "Entrez Gene: N-acetylglucosaminidase, alpha".

Further reading

  • Weber, B.; Blanch, L.; Clements, P. R.; Scott, H. S.; Hopwood, J. J. (1996). "Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)". Human Molecular Genetics. 5 (6): 771–777. doi:10.1093/hmg/5.6.771. PMID 8776591. 
  • Clark, A. G.; Glanowski, S.; Nielsen, R.; Thomas, P. D.; Kejariwal, A.; Todd, M. A.; Tanenbaum, D. M.; Civello, D.; Lu, F.; Murphy, B.; Ferriera, S.; Wang, G.; Zheng, X.; White, T. J.; Sninsky, J. J.; Adams, M. D.; Cargill, M. (2003). "Inferring Nonneutral Evolution from Human-Chimp-Mouse Orthologous Gene Trios". Science. 302 (5652): 1960–1963. doi:10.1126/science.1088821. PMID 14671302. 
  • Yogalingam, G.; Hopwood, J. J. (2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications". Human Mutation. 18 (4): 264–281. doi:10.1002/humu.1189. PMID 11668611. 
  • Zhao, H. G.; Li, H. H.; Bach, G.; Schmidtchen, A.; Neufeld, E. F. (1996). "The molecular basis of Sanfilippo syndrome type B". Proceedings of the National Academy of Sciences of the United States of America. 93 (12): 6101–6105. doi:10.1073/pnas.93.12.6101. PMC 39196Freely accessible. PMID 8650226. 
  • Winder-Rhodes, S. E.; Garcia-Reitböck, P.; Ban, M.; Evans, J. R.; Jacques, T. S.; Kemppinen, A.; Foltynie, T.; Williams-Gray, C. H.; Chinnery, P. F.; Hudson, G.; Burn, D. J.; Allcock, L. M.; Sawcer, S. J.; Barker, R. A.; Spillantini, M. G. (2012). "Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome". Movement Disorders. 27 (2): 312–315. doi:10.1002/mds.24029. PMID 22102531. 
  • Sasaki, T.; Sukegawa, K.; Masue, M.; Fukuda, S.; Tomatsu, S.; Orii, T. (1991). "Purification and partial characterization of alpha-N-acetylglucosaminidase from human liver". Journal of Biochemistry. 110 (5): 842–846. PMID 1783617. 
  • Vance, J. M.; Pericak-Vance, M. A.; Elston, R. C.; Conneally, P. M.; Namboodiri, K. K.; Wappner, R. S.; Yu, P. L.; Optiz, J. M. (1980). "Evidence of genetic variation for α-N-acetyl-D-glucosaminidase in black and white populations: A new polymorphism". American Journal of Medical Genetics. 7 (2): 131–140. doi:10.1002/ajmg.1320070207. PMID 6781343. 
  • Schmidtchen, A.; Greenberg, D.; Zhao, H. G.; Li, H. H.; Huang, Y.; Tieu, P.; Zhao, H. Z.; Cheng, S.; Zhao, Z.; Whitley, C. B.; Di Natale, P.; Neufeld, E. F. (1998). "NAGLU Mutations Underlying Sanfilippo Syndrome Type B". The American Journal of Human Genetics. 62 (1): 64–69. doi:10.1086/301685. PMC 1376809Freely accessible. PMID 9443878. 
  • Ayala, J. M.; Goyal, S.; Liverton, N. J.; Claremon, D. A.; O'Keefe, S. J.; Hanlon, W. A. (2000). "Serum-induced monocyte differentiation and monocyte chemotaxis are regulated by the p38 MAP kinase signal transduction pathway". Journal of leukocyte biology. 67 (6): 869–875. PMID 10857861. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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