NAGLU
N-acetylglucosaminidase, alpha | |||||||||||||
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Identifiers | |||||||||||||
Symbols | NAGLU ; MPS-IIIB; MPS3B; NAG; UFHSD | ||||||||||||
External IDs | OMIM: 609701 HomoloGene: 222 GeneCards: NAGLU Gene | ||||||||||||
EC number | 3.2.1.50 | ||||||||||||
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Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 4669 | 27419 | |||||||||||
Ensembl | ENSG00000108784 | ENSMUSG00000001751 | |||||||||||
UniProt | P54802 | n/a | |||||||||||
RefSeq (mRNA) | NM_000263 | NM_013792 | |||||||||||
RefSeq (protein) | NP_000254 | NP_038820 | |||||||||||
Location (UCSC) |
Chr 17: 42.54 – 42.54 Mb |
Chr 11: 101.07 – 101.08 Mb | |||||||||||
PubMed search | |||||||||||||
N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene.[1]
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.[1]
References
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 39196. 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 1376809. 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.
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