NAGLU

NAGLU
Identifiers
Aliases	NAGLU, MPS-IIIB, MPS3B, NAG, UFHSD, CMT2V, N-acetyl-alpha-glucosaminidase
External IDs	OMIM: 609701; MGI: 1351641; HomoloGene: 222; GeneCards: NAGLU; OMA:NAGLU - orthologs
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4XWH
Enzyme activity
Gene location (Human)
Chr.	Chromosome 17 (human)
End	42,544,449 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	100,968,498 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; body of pancreas; ; gastric mucosa; ; right lobe of liver; ; thoracic aorta; ; ascending aorta; ; right lobe of thyroid gland; ; right adrenal cortex; ; left adrenal gland; ; Descending thoracic aorta;
	Top expressed in
	right kidney; ; spermatocyte; ; decidua; ; stroma of bone marrow; ; proximal tubule; ; calvaria; ; gastrula; ; spermatid; ; choroid plexus of fourth ventricle; ; epithelium of lens;
	More reference expression data
	n/a
Gene ontology
Molecular function	alpha-N-acetylglucosaminidase activity; hydrolase activity; hydrolase activity, acting on glycosyl bonds;
Cellular component	lysosome; lysosomal lumen; extracellular exosome;
Biological process	metabolism; inner ear receptor cell development; lysosome organization; glycosaminoglycan catabolic process; retinal rod cell development; cerebellar Purkinje cell layer development; nervous system development; middle ear morphogenesis; locomotor rhythm;
	Sources:Amigo / QuickGO
Orthologs
	4669
	27419
	ENSG00000108784
	ENSMUSG00000001751
	P54802
	O88325
	NM_000263
	NM_013792
	NP_000254
	NP_038820
	Wikidata
View/Edit Human	View/Edit Mouse

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".

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.

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

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000108784 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000001751 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: N-acetylglucosaminidase, alpha".

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NAGLU

Function

Clinical significance

References

Further reading